Canonical Allele Identifier: CA125582
Gene: HBA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 15645
dbSNP Id: rs121909803
gnomAD v4: 16-172913-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.172913A>G , CM000678.2:g.172913A>G GRCh38
NC_000016.9:g.222912A>G , CM000678.1:g.222912A>G GRCh37
NC_000016.8:g.162912A>G NCBI36
NG_000006.1:g.33776A>G
NG_059186.1:g.1263A>G
NG_059271.1:g.5067A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000251595.11:c.1A>G MANE Select ENSP00000251595.6:p.Met1Val
ENST00000251595.10:c.1A>G ENSP00000251595.6:p.Met1Val
ENST00000397806.1:c.-47A>G ENSP00000380908.1:n.-47A>G
ENST00000482565.1:n.20A>G
NM_000517.4:c.1A>G NP_000508.1:p.Met1Val
NM_000517.6:c.1A>G MANE Select NP_000508.1:p.Met1Val