Canonical Allele Identifier: CA276414731

Gene: HBA2

Linked Data

• ClinVar Variation Id: 439112
• ClinVar RCV Id: RCV000507118 ; RCV001376060 ; RCV003323574 ; RCV001678588
• dbSNP Id: rs281864846
• gnomAD v4: 16-173208-G-A
• MyVariant Identifiers: chr16:g.223207G>A (hg19) ; chr16:g.173208G>A (hg38)
• PubMed: PMID:868864 ; PMID:8237999 ; PMID:9029003 ; PMID:11722414 ; PMID:20642338 ; PMID:24351118 ; PMID:24829075 ; PMID:27173219 ; PMID:27271331

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.173208G>A , CM000678.2:g.173208G>A	GRCh38
NC_000016.9:g.223207G>A , CM000678.1:g.223207G>A	GRCh37
NC_000016.8:g.163207G>A	NCBI36
NG_000006.1:g.34071G>A
NG_059186.1:g.1558G>A
NG_059271.1:g.5362G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251595.11:c.179G>A MANE Select	ENSP00000251595.6:p.Gly60Asp
ENST00000251595.10:c.179G>A	ENSP00000251595.6:p.Gly60Asp
ENST00000397806.1:c.83G>A	ENSP00000380908.1:p.Gly28Asp
ENST00000482565.1:n.315G>A
ENST00000484216.1:n.148G>A
NM_000517.4:c.179G>A	NP_000508.1:p.Gly60Asp
NM_000517.6:c.179G>A MANE Select	NP_000508.1:p.Gly60Asp