Canonical Allele Identifier: CA379264093

Gene: HBG2

Linked Data

• COSMIC: COSM1354318
• MyVariant Identifiers: chr11:g.5275531C>A (hg19) ; chr11:g.5254301C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5254301C>A , CM000673.2:g.5254301C>A	GRCh38
NC_000011.9:g.5275531C>A , CM000673.1:g.5275531C>A	GRCh37
NC_000011.8:g.5232107C>A	NCBI36
NG_000007.3:g.43315G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336906.6:c.306G>T MANE Select	ENSP00000338082.4:p.Glu102Asp
ENST00000380252.6:c.141G>T	ENSP00000369602.2:p.Glu47Asp
ENST00000642908.1:c.306G>T	ENSP00000495346.1:p.Glu102Asp
ENST00000647543.1:c.306G>T	ENSP00000496470.1:p.Glu102Asp
ENST00000336906.4:c.306G>T	ENSP00000338082.4:p.Glu102Asp
ENST00000380252.5:c.276G>T	ENSP00000369602.1:p.Glu92Asp
ENST00000380259.6:c.306G>T	ENSP00000369609.2:p.Glu102Asp
ENST00000444587.1:c.*175G>T	ENSP00000488218.1:n.*175G>T
ENST00000620888.4:c.306G>T	ENSP00000479637.1:p.Glu102Asp
ENST00000624109.1:c.49C>A	ENSP00000485458.1:p.Leu17Ile
NM_000184.2:c.306G>T	NP_000175.1:p.Glu102Asp
NM_000184.3:c.306G>T MANE Select	NP_000175.1:p.Glu102Asp