Canonical Allele Identifier: CA5840277

Gene: HBG2

Linked Data

• dbSNP Id: rs749493110
• ExAC: 11:5275744 C / T
• gnomAD v3: 11-5254514-C-T
• gnomAD v4: 11-5254514-C-T
• MyVariant Identifiers: chr11:g.5275744C>T (hg19) ; chr11:g.5254514C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5254514C>T , CM000673.2:g.5254514C>T	GRCh38
NC_000011.9:g.5275744C>T , CM000673.1:g.5275744C>T	GRCh37
NC_000011.8:g.5232320C>T	NCBI36
NG_000007.3:g.43102G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000336906.6:c.93G>A MANE Select	ENSP00000338082.4:p.Arg31=
ENST00000380252.6:c.-73G>A	ENSP00000369602.2:n.-73G>A
ENST00000380259.7:c.1639G>A	ENSP00000369609.3:n.1639G>A
ENST00000642908.1:c.93G>A	ENSP00000495346.1:p.Arg31=
ENST00000647543.1:c.93G>A	ENSP00000496470.1:p.Arg31=
ENST00000336906.4:c.93G>A	ENSP00000338082.4:p.Arg31=
ENST00000380252.5:c.63G>A	ENSP00000369602.1:p.Arg21=
ENST00000380259.6:c.93G>A	ENSP00000369609.2:p.Arg31=
ENST00000444587.1:c.55G>A	ENSP00000488218.1:p.Ala19Thr
ENST00000620888.4:c.93G>A	ENSP00000479637.1:p.Arg31=
ENST00000624109.1:c.262C>T	ENSP00000485458.1:p.Pro88Ser
NM_000184.2:c.93G>A	NP_000175.1:p.Arg31=
NM_000184.3:c.93G>A MANE Select	NP_000175.1:p.Arg31=