Canonical Allele Identifier: CA472886082
Gene: HBG2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.5275716T>G (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000336906.6:c.121A>C MANE Select ENSP00000338082.4:p.Arg41=
ENST00000380252.6:c.-45A>C ENSP00000369602.2:n.-45A>C
ENST00000380259.7:c.1667A>C ENSP00000369609.3:n.1667A>C
ENST00000642908.1:c.121A>C ENSP00000495346.1:p.Arg41=
ENST00000647543.1:c.121A>C ENSP00000496470.1:p.Arg41=
ENST00000336906.4:c.121A>C ENSP00000338082.4:p.Arg41=
ENST00000380252.5:c.91A>C ENSP00000369602.1:p.Arg31=
ENST00000380259.6:c.121A>C ENSP00000369609.2:p.Arg41=
ENST00000444587.1:c.83A>C ENSP00000488218.1:p.Glu28Ala
ENST00000620888.4:c.121A>C ENSP00000479637.1:p.Arg41=
ENST00000624109.1:c.234T>G ENSP00000485458.1:p.Pro78=
NM_000184.2:c.121A>C NP_000175.1:p.Arg41=
NM_000184.3:c.121A>C MANE Select NP_000175.1:p.Arg41=