Canonical Allele Identifier: CA217121237

Gene: HBG2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5254366C>G , CM000673.2:g.5254366C>G	GRCh38
NC_000011.9:g.5275596C>G , CM000673.1:g.5275596C>G	GRCh37
NC_000011.8:g.5232172C>G	NCBI36
NG_000007.3:g.43250G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000184.3:c.241G>C MANE Select	NP_000175.1:p.Asp81His
ENST00000336906.6:c.241G>C MANE Select	ENSP00000338082.4:p.Asp81His
NM_000184.2:c.241G>C	NP_000175.1:p.Asp81His
ENST00000336906.4:c.241G>C	ENSP00000338082.4:p.Asp81His
ENST00000380252.5:c.211G>C	ENSP00000369602.1:p.Asp71His
ENST00000380252.6:c.76G>C	ENSP00000369602.2:p.Asp26His
ENST00000380259.6:c.241G>C	ENSP00000369609.2:p.Asp81His
ENST00000444587.1:c.*110G>C	ENSP00000488218.1:n.*110G>C
ENST00000620888.4:c.241G>C	ENSP00000479637.1:p.Asp81His
ENST00000624109.1:c.114C>G	ENSP00000485458.1:p.Ile38Met
ENST00000642908.1:c.241G>C	ENSP00000495346.1:p.Asp81His
ENST00000647543.1:c.241G>C	ENSP00000496470.1:p.Asp81His