Canonical Allele Identifier: CA125550
Gene: HBA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 15626
dbSNP Id: rs41464951
gnomAD v4: 16-173598-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173598T>A , CM000678.2:g.173598T>A GRCh38
NC_000016.9:g.223597T>A , CM000678.1:g.223597T>A GRCh37
NC_000016.8:g.163597T>A NCBI36
NG_000006.1:g.34461T>A
NG_059186.1:g.1948T>A
NG_059271.1:g.5752T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000251595.11:c.427T>A MANE Select ENSP00000251595.6:p.Ter143Lys
ENST00000251595.10:c.427T>A ENSP00000251595.6:p.Ter143Lys
ENST00000397806.1:c.331T>A ENSP00000380908.1:p.Ter111Lys
ENST00000482565.1:n.563T>A
NM_000517.4:c.427T>A NP_000508.1:p.Ter143Lys
NM_000517.6:c.427T>A MANE Select NP_000508.1:p.Ter143Lys