Canonical Allele Identifier: CA379263519

Gene: HBG2

Linked Data

• MyVariant Identifiers: chr11:g.5274538A>T (hg19) ; chr11:g.5253308A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5253308A>T , CM000673.2:g.5253308A>T	GRCh38
NC_000011.9:g.5274538A>T , CM000673.1:g.5274538A>T	GRCh37
NC_000011.8:g.5231114A>T	NCBI36
NG_000007.3:g.44308T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336906.6:c.413T>A MANE Select	ENSP00000338082.4:p.Val138Glu
ENST00000380252.6:c.248T>A	ENSP00000369602.2:p.Val83Glu
ENST00000642908.1:c.315+984T>A	ENSP00000495346.1:n.315+984T>A
ENST00000647543.1:c.378+35T>A	ENSP00000496470.1:n.378+35T>A
ENST00000336906.4:c.413T>A	ENSP00000338082.4:p.Val138Glu
ENST00000380252.5:c.383T>A	ENSP00000369602.1:p.Val128Glu
ENST00000380259.6:c.413T>A	ENSP00000369609.2:p.Val138Glu
ENST00000620888.4:c.315+984T>A	ENSP00000479637.1:n.315+984T>A
NM_000184.2:c.413T>A	NP_000175.1:p.Val138Glu
NM_000184.3:c.413T>A MANE Select	NP_000175.1:p.Val138Glu