Canonical Allele Identifier: CA677767783

Gene: HBG2

Linked Data

• dbSNP Id: rs1386588200
• gnomAD v3: 11-5249932-T-C
• gnomAD v4: 11-5249932-T-C
• MyVariant Identifiers: chr11:g.5271162T>C (hg19) ; chr11:g.5249932T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5249932T>C , CM000673.2:g.5249932T>C	GRCh38
NC_000011.9:g.5271162T>C , CM000673.1:g.5271162T>C	GRCh37
NC_000011.8:g.5227738T>C	NCBI36
NG_000007.3:g.47684A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642908.1:c.316-1445A>G	ENSP00000495346.1:n.316-1445A>G
ENST00000647543.1:c.379-1445A>G	ENSP00000496470.1:n.379-1445A>G
ENST00000620888.4:c.316-1445A>G	ENSP00000479637.1:n.316-1445A>G