Canonical Allele Identifier: CA405425352
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35732589G>A , CM000681.2:g.35732589G>A GRCh38
NC_000019.9:g.36223490G>A , CM000681.1:g.36223490G>A GRCh37
NC_000019.8:g.40915330G>A NCBI36
NG_052906.1:g.19571G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000592092.2:n.346G>A
ENST00000673918.2:c.5974G>A ENSP00000501283.1:p.Gly1992Arg
ENST00000674114.2:c.3581G>A ENSP00000501039.2:n.3581G>A
ENST00000684977.1:c.1258G>A ENSP00000509384.1:p.Gly420Arg
ENST00000689544.1:n.1193G>A
ENST00000691421.1:c.1261G>A ENSP00000508674.1:p.Gly421Arg
ENST00000691855.1:c.5582G>A
ENST00000692961.1:c.6040G>A ENSP00000509289.1:p.Gly2014Arg
ENST00000693677.1:c.704+260G>A ENSP00000509779.1:n.704+260G>A
ENST00000420124.4:c.6040G>A MANE Select ENSP00000398837.2:p.Gly2014Arg
ENST00000673918.1:c.5974G>A ENSP00000501283.1:p.Gly1992Arg
ENST00000674114.1:c.3362G>A
ENST00000420124.2:c.6040G>A ENSP00000398837.1:p.Gly2014Arg
NM_014727.2:c.6040G>A NP_055542.1:p.Gly2014Arg
XM_011527561.1:c.5974G>A XP_011525863.1:p.Gly1992Arg
XM_011527562.1:c.6040G>A XP_011525864.1:p.Gly2014Arg
XM_011527563.1:c.5764G>A XP_011525865.1:p.Gly1922Arg
XM_011527561.2:c.5476G>A XP_011525863.2:p.Gly1826Arg
XM_011527562.2:c.6040G>A XP_011525864.1:p.Gly2014Arg
XM_017027544.1:c.6040G>A XP_016883033.1:p.Gly2014Arg
XM_017027545.1:c.5476G>A XP_016883034.1:p.Gly1826Arg
XM_017027546.1:c.3004G>A XP_016883035.1:p.Gly1002Arg
NM_014727.3:c.6040G>A MANE Select NP_055542.1:p.Gly2014Arg