Canonical Allele Identifier: CA1949575490
Community Standard Title: NM_000184.3(HBG2):c.364G= (p.Glu122=)
Gene: HBG2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5253357C= , CM000673.2:g.5253357C= GRCh38
NC_000011.9:g.5274587C= , CM000673.1:g.5274587C= GRCh37
NC_000011.8:g.5231163C= NCBI36
NG_000007.3:g.44259G=

Transcript Alleles

HGVS Amino-acid Change
NM_000184.3:c.364G= MANE Select NP_000175.1:p.Glu122=
ENST00000336906.6:c.364G= MANE Select ENSP00000338082.4:p.Glu122=
NM_000184.2:c.364G= NP_000175.1:p.Glu122=
ENST00000336906.4:c.364G= ENSP00000338082.4:p.Glu122=
ENST00000380252.5:c.334G= ENSP00000369602.1:p.Glu112=
ENST00000380252.6:c.199G= ENSP00000369602.2:p.Glu67=
ENST00000380259.6:c.364G= ENSP00000369609.2:p.Glu122=
ENST00000620888.4:c.315+935G= ENSP00000479637.1:n.315+935G=
ENST00000642908.1:c.315+935G= ENSP00000495346.1:n.315+935G=
ENST00000647543.1:c.364G= ENSP00000496470.1:p.Glu122=