Canonical Allele Identifier: CA934695813

Gene: HBG2

Linked Data

• dbSNP Id: rs1589906712
• gnomAD v3: 11-5250078-C-G
• gnomAD v4: 11-5250078-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5250078C>G , CM000673.2:g.5250078C>G	GRCh38
NC_000011.9:g.5271308C>G , CM000673.1:g.5271308C>G	GRCh37
NC_000011.8:g.5227884C>G	NCBI36
NG_000007.3:g.47538G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642908.1:c.316-1591G>C	ENSP00000495346.1:n.316-1591G>C
ENST00000647543.1:c.379-1591G>C	ENSP00000496470.1:n.379-1591G>C
ENST00000620888.4:c.316-1591G>C	ENSP00000479637.1:n.316-1591G>C