Variant #0000000467 (NC_000016.9:g.223538A>G, NM_000517.4:c.368A>G (HBA2))

Chromosome 16
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Probably affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.223538A>G
Reference -
DB-ID HBA2_000002
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 2024-03-28 09:46:18 +00:00 (UTC)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
HBA2 NM_000517.4 +?/+? 3 c.368A>G r.(?) p.(His123Arg)