Canonical Allele Identifier: CA124514

Gene: HBG2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5254303C>T , CM000673.2:g.5254303C>T	GRCh38
NC_000011.9:g.5275533C>T , CM000673.1:g.5275533C>T	GRCh37
NC_000011.8:g.5232109C>T	NCBI36
NG_000007.3:g.43313G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336906.6:c.304G>A MANE Select	ENSP00000338082.4:p.Glu102Lys
ENST00000380252.6:c.139G>A	ENSP00000369602.2:p.Glu47Lys
ENST00000642908.1:c.304G>A	ENSP00000495346.1:p.Glu102Lys
ENST00000647543.1:c.304G>A	ENSP00000496470.1:p.Glu102Lys
ENST00000336906.4:c.304G>A	ENSP00000338082.4:p.Glu102Lys
ENST00000380252.5:c.274G>A	ENSP00000369602.1:p.Glu92Lys
ENST00000380259.6:c.304G>A	ENSP00000369609.2:p.Glu102Lys
ENST00000444587.1:c.*173G>A	ENSP00000488218.1:n.*173G>A
ENST00000620888.4:c.304G>A	ENSP00000479637.1:p.Glu102Lys
ENST00000624109.1:c.51C>T	ENSP00000485458.1:p.Leu17=
NM_000184.2:c.304G>A	NP_000175.1:p.Glu102Lys
NM_000184.3:c.304G>A MANE Select	NP_000175.1:p.Glu102Lys