Canonical Allele Identifier: CA379264681

Gene: HBG2

Linked Data

• MyVariant Identifiers: chr11:g.5275720G>A (hg19) ; chr11:g.5254490G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5254490G>A , CM000673.2:g.5254490G>A	GRCh38
NC_000011.9:g.5275720G>A , CM000673.1:g.5275720G>A	GRCh37
NC_000011.8:g.5232296G>A	NCBI36
NG_000007.3:g.43126C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336906.6:c.117C>T MANE Select	ENSP00000338082.4:p.Thr39=
ENST00000380252.6:c.-49C>T	ENSP00000369602.2:n.-49C>T
ENST00000380259.7:c.1663C>T	ENSP00000369609.3:n.1663C>T
ENST00000642908.1:c.117C>T	ENSP00000495346.1:p.Thr39=
ENST00000647543.1:c.117C>T	ENSP00000496470.1:p.Thr39=
ENST00000336906.4:c.117C>T	ENSP00000338082.4:p.Thr39=
ENST00000380252.5:c.87C>T	ENSP00000369602.1:p.Thr29=
ENST00000380259.6:c.117C>T	ENSP00000369609.2:p.Thr39=
ENST00000444587.1:c.79C>T	ENSP00000488218.1:p.Pro27Ser
ENST00000620888.4:c.117C>T	ENSP00000479637.1:p.Thr39=
ENST00000624109.1:c.238G>A	ENSP00000485458.1:p.Gly80Ser
NM_000184.2:c.117C>T	NP_000175.1:p.Thr39=
NM_000184.3:c.117C>T MANE Select	NP_000175.1:p.Thr39=