Canonical Allele Identifier: CA217120593

Gene: HBG2

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5253330A>T , CM000673.2:g.5253330A>T	GRCh38
NC_000011.9:g.5274560A>T , CM000673.1:g.5274560A>T	GRCh37
NC_000011.8:g.5231136A>T	NCBI36
NG_000007.3:g.44286T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336906.6:c.391T>A MANE Select	ENSP00000338082.4:p.Trp131Arg
ENST00000380252.6:c.226T>A	ENSP00000369602.2:p.Trp76Arg
ENST00000642908.1:c.315+962T>A	ENSP00000495346.1:n.315+962T>A
ENST00000647543.1:c.378+13T>A	ENSP00000496470.1:n.378+13T>A
ENST00000336906.4:c.391T>A	ENSP00000338082.4:p.Trp131Arg
ENST00000380252.5:c.361T>A	ENSP00000369602.1:p.Trp121Arg
ENST00000380259.6:c.391T>A	ENSP00000369609.2:p.Trp131Arg
ENST00000620888.4:c.315+962T>A	ENSP00000479637.1:n.315+962T>A
NM_000184.2:c.391T>A	NP_000175.1:p.Trp131Arg
NM_000184.3:c.391T>A MANE Select	NP_000175.1:p.Trp131Arg