Canonical Allele Identifier: CA125639

Gene: HBA2

Linked Data

• ClinVar Variation Id: 15677
• ClinVar RCV Id: RCV000016963 ; RCV000016964 ; RCV000016965 ; RCV000016966
• dbSNP Id: rs111033605
• gnomAD v2: 16-223002-G-C
• MyVariant Identifiers: chr16:g.223002G>C (hg19) ; chr16:g.173003G>C (hg38)
• PubMed: PMID:508945 ; PMID:9029003 ; PMID:12603093 ; PMID:13703277 ; PMID:13748254

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.173003G>C , CM000678.2:g.173003G>C	GRCh38
NC_000016.9:g.223002G>C , CM000678.1:g.223002G>C	GRCh37
NC_000016.8:g.163002G>C	NCBI36
NG_000006.1:g.33866G>C
NG_059186.1:g.1353G>C
NG_059271.1:g.5157G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251595.11:c.91G>C MANE Select	ENSP00000251595.6:p.Glu31Gln
ENST00000251595.10:c.91G>C	ENSP00000251595.6:p.Glu31Gln
ENST00000397806.1:c.-2+45G>C	ENSP00000380908.1:n.-2+45G>C
ENST00000482565.1:n.110G>C
ENST00000484216.1:n.60G>C
NM_000517.4:c.91G>C	NP_000508.1:p.Glu31Gln
NM_000517.6:c.91G>C MANE Select	NP_000508.1:p.Glu31Gln