Canonical Allele Identifier: CA125597
Gene: HBA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 15653
dbSNP Id: rs41464951
gnomAD v2: 16-223597-T-G
gnomAD v3: 16-173598-T-G
gnomAD v4: 16-173598-T-G

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000251595.11:c.427T>G MANE Select ENSP00000251595.6:p.Ter143Glu
ENST00000251595.10:c.427T>G ENSP00000251595.6:p.Ter143Glu
ENST00000397806.1:c.331T>G ENSP00000380908.1:p.Ter111Glu
ENST00000482565.1:n.563T>G
NM_000517.4:c.427T>G NP_000508.1:p.Ter143Glu
NM_000517.6:c.427T>G MANE Select NP_000508.1:p.Ter143Glu