Canonical Allele Identifier: CA125550

Gene: HBA2

Linked Data

• ClinVar Variation Id: 15626
• ClinVar RCV Id: RCV000016893 ; RCV000022603 ; RCV000985726 ; RCV002250461 ; RCV004017255
• dbSNP Id: rs41464951
• gnomAD v4: 16-173598-T-A
• MyVariant Identifiers: chr16:g.223597T>A (hg19) ; chr16:g.173598T>A (hg38)
• PubMed: PMID:2372512 ; PMID:4422784

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