Canonical Allele Identifier: CA217119071
Gene: HBG2 HGNC NCBI

Linked Data

dbSNP Id: rs555346016
gnomAD v2: 11-5271355-T-A
gnomAD v3: 11-5250125-T-A
gnomAD v4: 11-5250125-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5250125T>A , CM000673.2:g.5250125T>A GRCh38
NC_000011.9:g.5271355T>A , CM000673.1:g.5271355T>A GRCh37
NC_000011.8:g.5227931T>A NCBI36
NG_000007.3:g.47491A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000642908.1:c.316-1638A>T ENSP00000495346.1:n.316-1638A>T
ENST00000647543.1:c.379-1638A>T ENSP00000496470.1:n.379-1638A>T
ENST00000620888.4:c.316-1638A>T ENSP00000479637.1:n.316-1638A>T