Canonical Allele Identifier: CA405424573
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35732469G>A , CM000681.2:g.35732469G>A GRCh38
NC_000019.9:g.36223370G>A , CM000681.1:g.36223370G>A GRCh37
NC_000019.8:g.40915210G>A NCBI36
NG_052906.1:g.19451G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000592092.2:n.226G>A
ENST00000673918.2:c.5854G>A ENSP00000501283.1:p.Gly1952Ser
ENST00000674114.2:c.3461G>A ENSP00000501039.2:n.3461G>A
ENST00000684977.1:c.1138G>A ENSP00000509384.1:p.Gly380Ser
ENST00000689544.1:n.1073G>A
ENST00000691421.1:c.1141G>A ENSP00000508674.1:p.Gly381Ser
ENST00000691855.1:c.5462G>A
ENST00000692961.1:c.5920G>A ENSP00000509289.1:p.Gly1974Ser
ENST00000693677.1:c.704+140G>A ENSP00000509779.1:n.704+140G>A
ENST00000420124.4:c.5920G>A MANE Select ENSP00000398837.2:p.Gly1974Ser
ENST00000673918.1:c.5854G>A ENSP00000501283.1:p.Gly1952Ser
ENST00000674114.1:c.3242G>A
ENST00000420124.2:c.5920G>A ENSP00000398837.1:p.Gly1974Ser
NM_014727.2:c.5920G>A NP_055542.1:p.Gly1974Ser
XM_011527561.1:c.5854G>A XP_011525863.1:p.Gly1952Ser
XM_011527562.1:c.5920G>A XP_011525864.1:p.Gly1974Ser
XM_011527563.1:c.5644G>A XP_011525865.1:p.Gly1882Ser
XM_011527561.2:c.5356G>A XP_011525863.2:p.Gly1786Ser
XM_011527562.2:c.5920G>A XP_011525864.1:p.Gly1974Ser
XM_017027544.1:c.5920G>A XP_016883033.1:p.Gly1974Ser
XM_017027545.1:c.5356G>A XP_016883034.1:p.Gly1786Ser
XM_017027546.1:c.2884G>A XP_016883035.1:p.Gly962Ser
NM_014727.3:c.5920G>A MANE Select NP_055542.1:p.Gly1974Ser