Canonical Allele Identifier: CA379264176

Gene: HBG2

Linked Data

• dbSNP Id: rs1221694495
• gnomAD v2: 11-5275562-A-C
• gnomAD v4: 11-5254332-A-C
• MyVariant Identifiers: chr11:g.5275562A>C (hg19) ; chr11:g.5254332A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5254332A>C , CM000673.2:g.5254332A>C	GRCh38
NC_000011.9:g.5275562A>C , CM000673.1:g.5275562A>C	GRCh37
NC_000011.8:g.5232138A>C	NCBI36
NG_000007.3:g.43284T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336906.6:c.275T>G MANE Select	ENSP00000338082.4:p.Leu92Arg
ENST00000380252.6:c.110T>G	ENSP00000369602.2:p.Leu37Arg
ENST00000642908.1:c.275T>G	ENSP00000495346.1:p.Leu92Arg
ENST00000647543.1:c.275T>G	ENSP00000496470.1:p.Leu92Arg
ENST00000336906.4:c.275T>G	ENSP00000338082.4:p.Leu92Arg
ENST00000380252.5:c.245T>G	ENSP00000369602.1:p.Leu82Arg
ENST00000380259.6:c.275T>G	ENSP00000369609.2:p.Leu92Arg
ENST00000444587.1:c.*144T>G	ENSP00000488218.1:n.*144T>G
ENST00000620888.4:c.275T>G	ENSP00000479637.1:p.Leu92Arg
ENST00000624109.1:c.80A>C	ENSP00000485458.1:p.Gln27Pro
NM_000184.2:c.275T>G	NP_000175.1:p.Leu92Arg
NM_000184.3:c.275T>G MANE Select	NP_000175.1:p.Leu92Arg