Canonical Allele Identifier: CA379264096

Gene: HBG2

Linked Data

• MyVariant Identifiers: chr11:g.5275532T>A (hg19) ; chr11:g.5254302T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5254302T>A , CM000673.2:g.5254302T>A	GRCh38
NC_000011.9:g.5275532T>A , CM000673.1:g.5275532T>A	GRCh37
NC_000011.8:g.5232108T>A	NCBI36
NG_000007.3:g.43314A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000336906.6:c.305A>T MANE Select	ENSP00000338082.4:p.Glu102Val
ENST00000380252.6:c.140A>T	ENSP00000369602.2:p.Glu47Val
ENST00000642908.1:c.305A>T	ENSP00000495346.1:p.Glu102Val
ENST00000647543.1:c.305A>T	ENSP00000496470.1:p.Glu102Val
ENST00000336906.4:c.305A>T	ENSP00000338082.4:p.Glu102Val
ENST00000380252.5:c.275A>T	ENSP00000369602.1:p.Glu92Val
ENST00000380259.6:c.305A>T	ENSP00000369609.2:p.Glu102Val
ENST00000444587.1:c.*174A>T	ENSP00000488218.1:n.*174A>T
ENST00000620888.4:c.305A>T	ENSP00000479637.1:p.Glu102Val
ENST00000624109.1:c.50T>A	ENSP00000485458.1:p.Leu17His
NM_000184.2:c.305A>T	NP_000175.1:p.Glu102Val
NM_000184.3:c.305A>T MANE Select	NP_000175.1:p.Glu102Val