Canonical Allele Identifier: CA125546

Gene: HBA2

Linked Data

• ClinVar Variation Id: 15624
• ClinVar RCV Id: RCV000016891 ; RCV000022602 ; RCV000169546 ; RCV000508088
• dbSNP Id: rs41464951
• ExAC: 16:223597 T / C
• gnomAD v2: 16-223597-T-C
• gnomAD v3: 16-173598-T-C
• gnomAD v4: 16-173598-T-C
• MyVariant Identifiers: chr16:g.223597T>C (hg19) ; chr16:g.173598T>C (hg38)
• PubMed: PMID:2298455 ; PMID:2468982 ; PMID:3177365 ; PMID:4623704 ; PMID:4944483 ; PMID:6725554 ; PMID:7327587 ; PMID:10870886 ; PMID:12393486 ; PMID:17164653 ; PMID:20301608 ; PMID:20507641

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000251595.11:c.427T>C MANE Select	ENSP00000251595.6:p.Ter143Gln
ENST00000251595.10:c.427T>C	ENSP00000251595.6:p.Ter143Gln
ENST00000397806.1:c.331T>C	ENSP00000380908.1:p.Ter111Gln
ENST00000482565.1:n.563T>C
NM_000517.4:c.427T>C	NP_000508.1:p.Ter143Gln
NM_000517.6:c.427T>C MANE Select	NP_000508.1:p.Ter143Gln