Variant #0000002813 (NC_000016.10:g.34071G>A, NM_000517.6:c.179G>A (HBA2))

Individual ID 00000651
Chromosome 16
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.34071G>A
Published as -
Reference Hafiza Alauddin et al.(2018)
DB-ID HBA2_000002 See all 26 reported entries
dbSNP ID rs281864846
Frequency -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Nur Aisyah Athirah
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nur Aisyah Athirah
Date created 2021-05-24 14:29:53 +08:00 (CST)
Date last edited 2021-08-01 12:58:07 +08:00 (CST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

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RNA change     

Protein     

GVS function     

Clinical classification     
HBA2 NM_000517.6 +/. - c.179G>A - r.(?) p.(Gly60Asp) - Pathogenic



Screenings


AscendingScreening ID     

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Genes screened     

Variants found     

Owner     
0000000718 DNA PCRm;SEQ HBA2 2 Nur Aisyah Athirah