Canonical Allele Identifier: CA125569

Gene: HBA2

Linked Data

• ClinVar Variation Id: 15636
• ClinVar RCV Id: RCV000016911 ; RCV000016913 ; RCV000016910 ; RCV000016912 ; RCV001544589 ; RCV001275680
• dbSNP Id: rs281864834
• ExAC: 16:223170 G / C
• gnomAD v2: 16-223170-G-C
• gnomAD v3: 16-173171-G-C
• gnomAD v4: 16-173171-G-C
• MyVariant Identifiers: chr16:g.223170G>C (hg19) ; chr16:g.223170_223171delinsCA (hg19) ; chr16:g.173171G>C (hg38)
• PubMed: PMID:620088 ; PMID:2752146 ; PMID:4448454 ; PMID:5587575 ; PMID:5643179 ; PMID:5713624 ; PMID:5780195 ; PMID:5794113 ; PMID:7110343 ; PMID:13968068

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.173171G>C , CM000678.2:g.173171G>C	GRCh38
NC_000016.9:g.223170G>C , CM000678.1:g.223170G>C	GRCh37
NC_000016.8:g.163170G>C	NCBI36
NG_000006.1:g.34034G>C
NG_059186.1:g.1521G>C
NG_059271.1:g.5325G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251595.11:c.142G>C MANE Select	ENSP00000251595.6:p.Asp48His
ENST00000251595.10:c.142G>C	ENSP00000251595.6:p.Asp48His
ENST00000397806.1:c.46G>C	ENSP00000380908.1:p.Asp16His
ENST00000482565.1:n.278G>C
ENST00000484216.1:n.111G>C
NM_000517.4:c.142G>C	NP_000508.1:p.Asp48His
NM_000517.6:c.142G>C MANE Select	NP_000508.1:p.Asp48His