Canonical Allele Identifier: CA217121215

Gene: HBG2

Linked Data

• dbSNP Id: rs281864576
• gnomAD v4: 11-5254327-A-G
• MyVariant Identifiers: chr11:g.5275557A>G (hg19) ; chr11:g.5254327A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5254327A>G , CM000673.2:g.5254327A>G	GRCh38
NC_000011.9:g.5275557A>G , CM000673.1:g.5275557A>G	GRCh37
NC_000011.8:g.5232133A>G	NCBI36
NG_000007.3:g.43289T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336906.6:c.280T>C MANE Select	ENSP00000338082.4:p.Cys94Arg
ENST00000380252.6:c.115T>C	ENSP00000369602.2:p.Cys39Arg
ENST00000642908.1:c.280T>C	ENSP00000495346.1:p.Cys94Arg
ENST00000647543.1:c.280T>C	ENSP00000496470.1:p.Cys94Arg
ENST00000336906.4:c.280T>C	ENSP00000338082.4:p.Cys94Arg
ENST00000380252.5:c.250T>C	ENSP00000369602.1:p.Cys84Arg
ENST00000380259.6:c.280T>C	ENSP00000369609.2:p.Cys94Arg
ENST00000444587.1:c.*149T>C	ENSP00000488218.1:n.*149T>C
ENST00000620888.4:c.280T>C	ENSP00000479637.1:p.Cys94Arg
ENST00000624109.1:c.75A>G	ENSP00000485458.1:p.Thr25=
NM_000184.2:c.280T>C	NP_000175.1:p.Cys94Arg
NM_000184.3:c.280T>C MANE Select	NP_000175.1:p.Cys94Arg