Variant #0000000028 (NC_000016.9:g.223597T>A, NM_000517.4:c.427T>A (HBA2))

Chromosome 16
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.223597T>A
Reference Kanavakis E et al. 1996
DB-ID HBA2_000001
Frequency -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Sabine Heber
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Sabine Heber
Date created 2017-05-24 15:14:01 +00:00 (UTC)
Date last edited N/A
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
HBA2 NM_000517.4 +/+ 3 c.427T>A r.(?) p.(*143Lysext*31)