Canonical Allele Identifier: CA934695773

Gene: HBG2

Linked Data

• dbSNP Id: rs1847927680
• gnomAD v3: 11-5249981-A-T
• gnomAD v4: 11-5249981-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5249981A>T , CM000673.2:g.5249981A>T	GRCh38
NC_000011.9:g.5271211A>T , CM000673.1:g.5271211A>T	GRCh37
NC_000011.8:g.5227787A>T	NCBI36
NG_000007.3:g.47635T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642908.1:c.316-1494T>A	ENSP00000495346.1:n.316-1494T>A
ENST00000647543.1:c.379-1494T>A	ENSP00000496470.1:n.379-1494T>A
ENST00000620888.4:c.316-1494T>A	ENSP00000479637.1:n.316-1494T>A