Transcript #00000023 (NM_000517.6, HBA2 gene)

Transcript name hemoglobin subunit alpha 2
Gene name HBA2 (hemoglobin subunit alpha 2)
Chromosome 16
Transcript - NCBI ID NM_000517.6
Transcript - Ensembl ID -
Protein - NCBI ID NP_000508.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

59 entries on 1 page. Showing entries 1 - 59.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     
?/. - c.91G>C - r.(?) p.(Glu31Gln) - ClinVar
+/. - c.95+1G>A IVS-I-1 (G>A) r.spl? p.? - Pathogenic
+/. - c.95+1G>A - r.spl? p.? - ClinVar
?/. - c.99G>A - r.(?) p.(Met33Ile) - ClinVar
+/. - c.99G>A -α3.7/αα r.(?) p.(Met33Ile) - ClinVar
+/. 2 c.179G>A - r.(?) p.(Gly60Asp) - ClinVar
+/. 2 c.179G>A - r.(?) p.(Gly60Asp) - ClinVar
+/. 2 c.179G>A - r.(?) p.(Gly60Asp) - ClinVar
?/. 2 c.179G>A - r.(?) p.(Gly60Asp) - -
?/. 2 c.179G>A - r.(?) p.(Gly60Asp) - ClinVar
+/. - c.179G>A - r.(?) p.(Gly60Asp) - Pathogenic
?/. - c.179G>A - r.(?) p.(Gly60Asp) - Pathogenic
+/. - c.179G>A - r.(?) p.(Gly60Asp) - Pathogenic
+/. - c.179G>A - r.(?) p.(Gly60Asp) - Pathogenic
+/. - c.179G>A - r.(?) p.(Gly60Asp) - Pathogenic
+/. - c.179G>A - r.(?) p.(Gly60Asp) - Pathogenic
+/. - c.179G>A - r.(?) p.(Gly60Asp) - Pathogenic
+/. - c.179G>A - r.(?) p.(Gly60Asp) - Pathogenic​
+/. - c.179G>A - r.(?) p.(Gly60Asp) - Pathogenic​
+/. - c.179G>A - r.(?) p.(Gly60Asp) - Pathogenic
+/. - c.179G>A - r.(?) p.(Gly60Asp) - Pathogenic
+/. - c.179G>A - r.(?) p.(Gly60Asp) - Pathogenic
+/. - c.179G>A - r.(?) p.(Gly60Asp) - Pathogenic
+/. - c.179G>A - r.(?) p.(Gly60Asp) - Pathogenic
+/. - c.179G>A - r.(?) p.(Gly60Asp) - Pathogenic
+/. - c.179G>A - r.(?) p.(Gly60Asp) - Pathogenic
+/. - c.179G>A - r.(?) p.(Gly60Asp) - Pathogenic
+/. - c.179G>A - r.(?) p.(Gly60Asp) - Pathogenic
+/. - c.179G>A - r.(?) p.(Gly60Asp) - Pathogenic
+/. - c.179G>A - r.(?) p.(Gly60Asp) - Pathogenic
+/. - c.179G>A - r.(?) p.(Gly60Asp) - Pathogenic
+/. - c.300+55_*3587del - r.? p.? - -
+/. - c.300+55_*3587del - r.? p.? - -
+/. - c.300+55_*3587del - r.? p.? - -
+/. - c.300+55_*3587del - r.? p.? - -
+/. - c.300+55_*3587del - r.? p.? - Pathogenic
+/. - c.300+55_*3587del -α3.7/αα r.? p.? - ClinVar
?/. - c.369C>G --SEA/αα r.(?) p.(His123Gln) - ClinVar
+/. 3 c.377T>C - r.(?) p.(Leu126Pro) - ClinVar
?/. 3 c.377T>C - r.(?) p.(Leu126Pro) - ClinVar
+/. 3 c.427T>C - r.(?) p.(*143Glnext*31) - ClinVar
+/. 3 c.427T>C - r.(?) p.(*143Glnext*31) - ClinVar
?/. 3 c.427T>C - r.(?) p.(*143Glnext*31) - ClinVar
?/. 3 c.427T>C - r.(?) p.(*143Glnext*31) - ClinVar
+?/. - c.427T>C - r.(?) p.(*143Glnext*31) - Pathogenic
+/. - c.427T>C - r.(?) p.(*143Glnext*31) - Pathogenic
+/. - c.427T>C - r.(?) p.(*143Glnext*31) - Pathogenic
+/. - c.427T>C - r.(?) p.(*143Glnext*31) - Pathogeic
+/. - c.427T>C - r.(?) p.(*143Glnext*31) - Pathogenic
+/. - c.427T>C - r.(?) p.(*143Glnext*31) - Pathogenic
+/. - c.427T>C - r.(?) p.(*143Glnext*31) - Pathogenic
+/. - c.427T>C - r.(?) p.(*143Glnext*31) - Pathogenic
+/. - c.427T>C - r.(?) p.(*143Glnext*31) - Pathogenic
+/. - c.427T>C - r.(?) p.(*143Glnext*31) - Pathogenic
+/. - c.427T>C - r.(?) p.(*143Glnext*31) - Pathogenic
+/. - c.427T>C - r.(?) p.(*143Glnext*31) - Pathogenic
+/. - c.427T>C - r.(?) p.(*143Glnext*31) - Pathogenic
+/. - c.427T>C - r.(?) p.(*143Glnext*31) - Pathogenic
+/. - c.429A>T - r.(?) p.(*143Tyrext*31) - Pathogenic
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