Canonical Allele Identifier: CA125597

Gene: HBA2

Linked Data

• ClinVar Variation Id: 15653
• ClinVar RCV Id: RCV000016939 ; RCV000759054 ; RCV001275682
• dbSNP Id: rs41464951
• gnomAD v2: 16-223597-T-G
• gnomAD v3: 16-173598-T-G
• gnomAD v4: 16-173598-T-G
• MyVariant Identifiers: chr16:g.223597T>G (hg19) ; chr16:g.173598T>G (hg38)

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