Canonical Allele Identifier: CA405427381
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35732808G>A , CM000681.2:g.35732808G>A GRCh38
NC_000019.9:g.36223709G>A , CM000681.1:g.36223709G>A GRCh37
NC_000019.8:g.40915549G>A NCBI36
NG_052906.1:g.19790G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000592092.2:n.565G>A
ENST00000673918.2:c.6193G>A ENSP00000501283.1:p.Gly2065Arg
ENST00000674114.2:c.3800G>A ENSP00000501039.2:n.3800G>A
ENST00000684977.1:c.1477G>A ENSP00000509384.1:p.Gly493Arg
ENST00000689544.1:n.1412G>A
ENST00000691421.1:c.1480G>A ENSP00000508674.1:p.Gly494Arg
ENST00000691855.1:c.5801G>A
ENST00000692961.1:c.6259G>A ENSP00000509289.1:p.Gly2087Arg
ENST00000693677.1:c.704+479G>A ENSP00000509779.1:n.704+479G>A
ENST00000420124.4:c.6259G>A MANE Select ENSP00000398837.2:p.Gly2087Arg
ENST00000673918.1:c.6193G>A ENSP00000501283.1:p.Gly2065Arg
ENST00000674114.1:c.3581G>A
ENST00000420124.2:c.6259G>A ENSP00000398837.1:p.Gly2087Arg
NM_014727.2:c.6259G>A NP_055542.1:p.Gly2087Arg
XM_011527561.1:c.6193G>A XP_011525863.1:p.Gly2065Arg
XM_011527562.1:c.6259G>A XP_011525864.1:p.Gly2087Arg
XM_011527563.1:c.5983G>A XP_011525865.1:p.Gly1995Arg
XM_011527561.2:c.5695G>A XP_011525863.2:p.Gly1899Arg
XM_011527562.2:c.6259G>A XP_011525864.1:p.Gly2087Arg
XM_017027544.1:c.6259G>A XP_016883033.1:p.Gly2087Arg
XM_017027545.1:c.5695G>A XP_016883034.1:p.Gly1899Arg
XM_017027546.1:c.3223G>A XP_016883035.1:p.Gly1075Arg
NM_014727.3:c.6259G>A MANE Select NP_055542.1:p.Gly2087Arg