Canonical Allele Identifier: CA5840274

Gene: HBG2

Linked Data

• dbSNP Id: rs781190319
• ExAC: 11:5275705 G / A
• gnomAD v2: 11-5275705-G-A
• gnomAD v4: 11-5254475-G-A
• MyVariant Identifiers: chr11:g.5275705G>A (hg19) ; chr11:g.5254475G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5254475G>A , CM000673.2:g.5254475G>A	GRCh38
NC_000011.9:g.5275705G>A , CM000673.1:g.5275705G>A	GRCh37
NC_000011.8:g.5232281G>A	NCBI36
NG_000007.3:g.43141C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336906.6:c.132C>T MANE Select	ENSP00000338082.4:p.Asp44=
ENST00000380252.6:c.-34C>T	ENSP00000369602.2:n.-34C>T
ENST00000380259.7:c.1678C>T	ENSP00000369609.3:n.1678C>T
ENST00000642908.1:c.132C>T	ENSP00000495346.1:p.Asp44=
ENST00000647543.1:c.132C>T	ENSP00000496470.1:p.Asp44=
ENST00000336906.4:c.132C>T	ENSP00000338082.4:p.Asp44=
ENST00000380252.5:c.102C>T	ENSP00000369602.1:p.Asp34=
ENST00000380259.6:c.132C>T	ENSP00000369609.2:p.Asp44=
ENST00000444587.1:c.*1C>T	ENSP00000488218.1:n.*1C>T
ENST00000620888.4:c.132C>T	ENSP00000479637.1:p.Asp44=
ENST00000624109.1:c.223G>A	ENSP00000485458.1:p.Val75Ile
NM_000184.2:c.132C>T	NP_000175.1:p.Asp44=
NM_000184.3:c.132C>T MANE Select	NP_000175.1:p.Asp44=