Canonical Allele Identifier: CA379264660

Gene: HBG2

Linked Data

• MyVariant Identifiers: chr11:g.5275716T>A (hg19) ; chr11:g.5254486T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5254486T>A , CM000673.2:g.5254486T>A	GRCh38
NC_000011.9:g.5275716T>A , CM000673.1:g.5275716T>A	GRCh37
NC_000011.8:g.5232292T>A	NCBI36
NG_000007.3:g.43130A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336906.6:c.121A>T MANE Select	ENSP00000338082.4:p.Arg41Trp
ENST00000380252.6:c.-45A>T	ENSP00000369602.2:n.-45A>T
ENST00000380259.7:c.1667A>T	ENSP00000369609.3:n.1667A>T
ENST00000642908.1:c.121A>T	ENSP00000495346.1:p.Arg41Trp
ENST00000647543.1:c.121A>T	ENSP00000496470.1:p.Arg41Trp
ENST00000336906.4:c.121A>T	ENSP00000338082.4:p.Arg41Trp
ENST00000380252.5:c.91A>T	ENSP00000369602.1:p.Arg31Trp
ENST00000380259.6:c.121A>T	ENSP00000369609.2:p.Arg41Trp
ENST00000444587.1:c.83A>T	ENSP00000488218.1:p.Glu28Val
ENST00000620888.4:c.121A>T	ENSP00000479637.1:p.Arg41Trp
ENST00000624109.1:c.234T>A	ENSP00000485458.1:p.Pro78=
NM_000184.2:c.121A>T	NP_000175.1:p.Arg41Trp
NM_000184.3:c.121A>T MANE Select	NP_000175.1:p.Arg41Trp