All variants in the HBA2 gene

Information The variants shown are described using the NM_000517.6 transcript reference sequence.

59 entries on 1 page. Showing entries 1 - 59.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     

DNA change (genomic) (hg38)     

Published as     

Reference     

DB-ID     

dbSNP ID     

Frequency     

Variant remarks     

Owner     
?/. - c.91G>C - r.(?) p.(Glu31Gln) - ClinVar g.33866G>C - Rahimah Ahmad et al.(2012),dbSNP HBA2_000006 rs111033605 1/150 - Noorzalifah Binti Mazuki
+/. - c.95+1G>A IVS-I-1 (G>A) r.spl? p.? - Pathogenic g.33871G>A - Hafiza Alauddin et al.(2018) HBA2_000003 rs63750158 - - Nur Aisyah Athirah
+/. - c.95+1G>A - r.spl? p.? - ClinVar g.173008G>A - Rahimah Ahmad et al.(2012),dbSNP HBA2_000003 rs63750158 23/150 - Noorzalifah Binti Mazuki
+/. - c.99G>A -α3.7/αα r.(?) p.(Met33Ile) - ClinVar g.223127G>A -α3.7/αα dbSNP HBA2_000005 rs41515552 - - Nurul Atika Binti Musa
?/. - c.99G>A - r.(?) p.(Met33Ile) - ClinVar g.173128G>A - Rahimah Ahmad et al.(2012),dbSNP HBA2_000005 rs41515552 86/150 - Noorzalifah Binti Mazuki
+/. - c.179G>A - r.(?) p.(Gly60Asp) - Pathogenic g.34071G>A - Jin Ai Mary Anne Tan et al.(2016) HBA2_000002 rs281864846 - Hb Adana Nur Aisyah Athirah
+/. - c.179G>A - r.(?) p.(Gly60Asp) - Pathogenic g.34071G>A - Jin Ai Mary Anne Tan et al.(2016) HBA2_000002 rs281864846 - Hb Adana Nur Aisyah Athirah
+/. - c.179G>A - r.(?) p.(Gly60Asp) - Pathogenic g.34071G>A - Jin Ai Mary Anne Tan et al.(2016) HBA2_000002 rs281864846 - Hb Adana Nur Aisyah Athirah
+/. - c.179G>A - r.(?) p.(Gly60Asp) - Pathogenic g.34071G>A - Jin Ai Mary Anne Tan et al.(2016) HBA2_000002 rs281864846 - Hb Adana Nur Aisyah Athirah
+/. - c.179G>A - r.(?) p.(Gly60Asp) - Pathogenic g.34071G>A - Jin Ai Mary Anne Tan et al.(2016) HBA2_000002 rs281864846 - Hb Adana Nur Aisyah Athirah
+/. - c.179G>A - r.(?) p.(Gly60Asp) - Pathogenic g.34071G>A - Jin Ai Mary Anne Tan et al.(2016) HBA2_000002 rs281864846 - Hb Adana Nur Aisyah Athirah
+/. - c.179G>A - r.(?) p.(Gly60Asp) - Pathogenic g.34071G>A - Jin Ai Mary Anne Tan et al.(2016) HBA2_000002 rs281864846 - Hb Adana Nur Aisyah Athirah
+/. - c.179G>A - r.(?) p.(Gly60Asp) - Pathogenic g.34071G>A - Jin Ai Mary Anne Tan et al.(2016) HBA2_000002 rs281864846 - Hb Adana Nur Aisyah Athirah
+/. - c.179G>A - r.(?) p.(Gly60Asp) - Pathogenic g.34071G>A - Jin Ai Mary Anne Tan et al.(2016) HBA2_000002 rs281864846 - Hb Adana Nur Aisyah Athirah
+/. - c.179G>A - r.(?) p.(Gly60Asp) - Pathogenic g.34071G>A - Jin Ai Mary Anne Tan et al.(2016) HBA2_000002 rs281864846 - Hb Adana Nur Aisyah Athirah
+/. - c.179G>A - r.(?) p.(Gly60Asp) - Pathogenic g.34071G>A - Jin Ai Mary Anne Tan et al.(2016) HBA2_000002 rs281864846 - Hb Adana Nur Aisyah Athirah
+/. - c.179G>A - r.(?) p.(Gly60Asp) - Pathogenic​ g.34071G>A - Jin Ai Mary Anne Tan et al.(2016) HBA2_000002 rs281864846 - Hb Adana Nur Aisyah Athirah
+/. - c.179G>A - r.(?) p.(Gly60Asp) - Pathogenic​ g.34071G>A - Jin-Ai M A Tan et al.(2014) HBA2_000002 rs281864846 - - Nur Aisyah Athirah
+/. - c.179G>A - r.(?) p.(Gly60Asp) - Pathogenic g.34071G>A - Hafiza Alauddin et al.(2018) HBA2_000002 rs281864846 - - Nur Aisyah Athirah
+/. - c.179G>A - r.(?) p.(Gly60Asp) - Pathogenic g.34071G>A - Jin Ai Mary Anne Tan et al.(2016) HBA2_000002 rs281864846 - Hb Adana Nur Aisyah Athirah
?/. - c.179G>A - r.(?) p.(Gly60Asp) - Pathogenic g.173208G>A - S Shwe et al.(2020) HBA2_000002 rs281864846 - - Nur Aisyah Athirah
+/. 2 c.179G>A - r.(?) p.(Gly60Asp) - ClinVar g.173208G>A - Rahimah Ahmad et al. (2013), dbSNP, (OMIM 0174) HBA2_000002 rs281864846 2/312 - Nuur Athirah Binti Mohd Daud
+/. 2 c.179G>A - r.(?) p.(Gly60Asp) - ClinVar g.173208G>A - Rahimah Ahmad et al. (2013), dbSNP, (OMIM 0174) HBA2_000002 rs281864846 2/558 - Nuur Athirah Binti Mohd Daud
+/. 2 c.179G>A - r.(?) p.(Gly60Asp) - ClinVar g.173208G>A - Rahimah Ahmad et al. (2013){dbSNP:rs281864846ClinVar HBA2_000002 rs281864846 1/19 - Nuur Athirah Binti Mohd Daud
?/. 2 c.179G>A - r.(?) p.(Gly60Asp) - - g.173208G>A - Rahimah Ahmad et al. (2013), dbSNP, (OMIM 0174) HBA2_000002 rs281864846 9/3138 - Nuur Athirah Binti Mohd Daud
?/. 2 c.179G>A - r.(?) p.(Gly60Asp) - ClinVar g.173208G>A - (OMIM [2])(OMIM [2])Rahimah Ahmad et al. (2013), dbSNP, (OMIM 0174)(OMIM [2]) HBA2_000002 rs281864846 3/26 - Nuur Athirah Binti Mohd Daud
+/. - c.179G>A - r.(?) p.(Gly60Asp) - Pathogenic g.173208G>A - T Y Lee et al.(2016) HBA2_000002 rs281864846 - - Nur Aisyah Athirah
+/. - c.179G>A - r.(?) p.(Gly60Asp) - Pathogenic g.173208G>A - Hafiza Alauddin et al.(2014) HBA2_000002 rs281864846 - - Nur Aisyah Athirah
+/. - c.179G>A - r.(?) p.(Gly60Asp) - Pathogenic g.5362G>A - Hafiza Alauddin et al.(2014) HBA2_000002 rs281864846 - - Nur Aisyah Athirah
+/. - c.179G>A - r.(?) p.(Gly60Asp) - Pathogenic g.5362G>A - Hafiza Alauddin et al.(2014) HBA2_000002 rs281864846 - - Nur Aisyah Athirah
+/. - c.179G>A - r.(?) p.(Gly60Asp) - Pathogenic g.5362G>A - Hafiza Alauddin et al.(2014) HBA2_000002 rs281864846 - - Nur Aisyah Athirah
+/. - c.300+55_*3587del -α3.7/αα r.? p.? - ClinVar NC_000016.10:g.173384_177187del -α3.7/αα dbSNP HBA1_000002 rs41515552 - - Nurul Atika Binti Musa
+/. - c.300+55_*3587del - r.? p.? - - g.34164_37967del3804 - Jin-Ai M A Tan et al.(2014) HBA1_000002 - - - Nur Aisyah Athirah
+/. - c.300+55_*3587del - r.? p.? - - g.34164_37967del3804 - Jin-Ai M A Tan et al.(2014) HBA1_000002 - - - Nur Aisyah Athirah
+/. - c.300+55_*3587del - r.? p.? - - g.34164_37967del3804 - Jin-Ai M A Tan et al.(2014) HBA1_000002 - - - Nur Aisyah Athirah
+/. - c.300+55_*3587del - r.? p.? - - g.34164_37967del3804 - Jin-Ai M A Tan et al.(2014) HBA1_000002 - - - Nur Aisyah Athirah
+/. - c.300+55_*3587del - r.? p.? - Pathogenic g.34247_38050del g.34164_37967del3804 Jin Ai Mary Anne Tan et al.(2016) HBA1_000002 - - Hb -α3.7 Nur Aisyah Athirah
?/. - c.369C>G --SEA/αα r.(?) p.(His123Gln) - ClinVar g.223539C>G --SEA/αα dbSNP HBA2_000007 rs41479347 - - Nurul Atika Binti Musa
+/. 3 c.377T>C - r.(?) p.(Leu126Pro) - ClinVar g.173548T>C - Rahimah Ahmad et al. (2013)dbSNP HBA2_000001 rs41397847 13/558 - Nuur Athirah Binti Mohd Daud
?/. 3 c.377T>C - r.(?) p.(Leu126Pro) - ClinVar g.173548T>C - Rahimah Ahmad et al. (2013), dbSNP, (OMIM 0005) HBA2_000001 rs41397847 4/3138 - Nuur Athirah Binti Mohd Daud
+/. - c.427T>C - r.(?) p.(*143Glnext*31) - Pathogenic g.34461T>C - Jin Ai Mary Anne Tan et al.(2016) HBA1_000001 rs41464951 - Hb Constant Spring Nur Aisyah Athirah
+/. - c.427T>C - r.(?) p.(*143Glnext*31) - Pathogenic g.34461T>C - Jin Ai Mary Anne Tan et al.(2016) HBA1_000001 rs41464951 - Hb Constant Spring Nur Aisyah Athirah
+/. - c.427T>C - r.(?) p.(*143Glnext*31) - Pathogenic g.34461T>C - Jin Ai Mary Anne Tan et al.(2016) HBA1_000001 rs41464951 - Hb Constant Spring Nur Aisyah Athirah
?/. 3 c.427T>C - r.(?) p.(*143Glnext*31) - ClinVar g.173598T>C - Rahimah Ahmad et al. (2013), dbSNP, (OMIM 0001) HBA1_000001 rs41464951 6/19 - Nuur Athirah Binti Mohd Daud
+/. - c.427T>C - r.(?) p.(*143Glnext*31) - Pathogenic g.34461T>C - Jin Ai Mary Anne Tan et al.(2016) HBA1_000001 rs41464951 - Hb Constant Spring Nur Aisyah Athirah
+/. - c.427T>C - r.(?) p.(*143Glnext*31) - Pathogenic g.34461T>C - Jin Ai Mary Anne Tan et al.(2016) HBA1_000001 rs41464951 - Hb Constant Spring Nur Aisyah Athirah
+/. 3 c.427T>C - r.(?) p.(*143Glnext*31) - ClinVar g.173598T>C - Rahimah Ahmad et al. (2013)dbSNP HBA1_000001 rs41464951 10/312 - Nuur Athirah Binti Mohd Daud
+/. 3 c.427T>C - r.(?) p.(*143Glnext*31) - ClinVar g.173598T>C - Rahimah Ahmad et al. (2013), dbSNP, (OMIM 0001) HBA1_000001 rs41464951 10/558 - Nuur Athirah Binti Mohd Daud
+/. - c.427T>C - r.(?) p.(*143Glnext*31) - Pathogenic g.34461T>C - Jin Ai Mary Anne Tan et al.(2016) HBA1_000001 rs41464951 - Hb Constant Spring Nur Aisyah Athirah
+/. - c.427T>C - r.(?) p.(*143Glnext*31) - Pathogenic g.34461T>C - Jin Ai Mary Anne Tan et al.(2016) HBA1_000001 rs41464951 - Hb Constant Spring Nur Aisyah Athirah
+/. - c.427T>C - r.(?) p.(*143Glnext*31) - Pathogenic g.34461T>C - Jin Ai Mary Anne Tan et al.(2016) HBA1_000001 rs41464951 - Hb Constant Spring Nur Aisyah Athirah
+/. - c.427T>C - r.(?) p.(*143Glnext*31) - Pathogenic g.34461T>C - Jin Ai Mary Anne Tan et al.(2016) HBA1_000001 rs41464951 - Hb Constant Spring Nur Aisyah Athirah
+/. - c.427T>C - r.(?) p.(*143Glnext*31) - Pathogenic g.34461T>C - Jin Ai Mary Anne Tan et al.(2016) HBA1_000001 rs41464951 - Hb Constant Spring Nur Aisyah Athirah
+/. - c.427T>C - r.(?) p.(*143Glnext*31) - Pathogeic g.34461T>C - Jin Ai Mary Anne Tan et al.(2016) HBA1_000001 rs41464951 - Hb Constant Spring Nur Aisyah Athirah
+/. - c.427T>C - r.(?) p.(*143Glnext*31) - Pathogenic g.173598T>C - Hafiza Alauddin et al.(2014) HBA1_000001 rs41464951 - - Nur Aisyah Athirah
?/. 3 c.427T>C - r.(?) p.(*143Glnext*31) - ClinVar g.173598T>C - Rahimah Ahmad et al. (2013), dbSNP, (OMIM 0001) HBA1_000001 rs41464951 17/3138 - Nuur Athirah Binti Mohd Daud
+?/. - c.427T>C - r.(?) p.(*143Glnext*31) - Pathogenic g.173598T>C - S Shwe et al.(2020) HBA1_000001 rs41464951 - - Nur Aisyah Athirah
+/. - c.427T>C - r.(?) p.(*143Glnext*31) - Pathogenic g.173598T>C - Hafiza Alauddin et al.(2014) HBA1_000001 rs41464951 - - Nur Aisyah Athirah
+/. - c.429A>T - r.(?) p.(*143Tyrext*31) - Pathogenic g.34463A>T - Jin Ai Mary Anne Tan et al.(2016) HBA2_000004 rs41412046 - Hb Paksé Nur Aisyah Athirah
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