Canonical Allele Identifier: CA379264939
Gene: HBG2 HGNC NCBI

Linked Data

dbSNP Id: rs1350127574
gnomAD v2: 11-5275870-C-T
gnomAD v3: 11-5254640-C-T
gnomAD v4: 11-5254640-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5254640C>T , CM000673.2:g.5254640C>T GRCh38
NC_000011.9:g.5275870C>T , CM000673.1:g.5275870C>T GRCh37
NC_000011.8:g.5232446C>T NCBI36
NG_000007.3:g.42976G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000336906.6:c.89G>A MANE Select ENSP00000338082.4:p.Gly30Glu
ENST00000380252.6:c.-73-126G>A ENSP00000369602.2:n.-73-126G>A
ENST00000380259.7:c.1635G>A ENSP00000369609.3:n.1635G>A
ENST00000642908.1:c.89G>A ENSP00000495346.1:p.Gly30Glu
ENST00000647543.1:c.89G>A ENSP00000496470.1:p.Gly30Glu
ENST00000336906.4:c.89G>A ENSP00000338082.4:p.Gly30Glu
ENST00000380252.5:c.63-126G>A ENSP00000369602.1:n.63-126G>A
ENST00000380259.6:c.89G>A ENSP00000369609.2:p.Gly30Glu
ENST00000444587.1:c.54+35G>A ENSP00000488218.1:n.54+35G>A
ENST00000620888.4:c.89G>A ENSP00000479637.1:p.Gly30Glu
ENST00000624109.1:c.269C>T ENSP00000485458.1:p.Ser90Phe
NM_000184.2:c.89G>A NP_000175.1:p.Gly30Glu
NM_000184.3:c.89G>A MANE Select NP_000175.1:p.Gly30Glu