Canonical Allele Identifier: CA405424515
Gene: KMT2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35732460G>A , CM000681.2:g.35732460G>A GRCh38
NC_000019.9:g.36223361G>A , CM000681.1:g.36223361G>A GRCh37
NC_000019.8:g.40915201G>A NCBI36
NG_052906.1:g.19442G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000592092.2:n.217G>A
ENST00000673918.2:c.5845G>A ENSP00000501283.1:p.Glu1949Lys
ENST00000674114.2:c.3452G>A ENSP00000501039.2:n.3452G>A
ENST00000684977.1:c.1129G>A ENSP00000509384.1:p.Glu377Lys
ENST00000689544.1:n.1064G>A
ENST00000691421.1:c.1132G>A ENSP00000508674.1:p.Glu378Lys
ENST00000691855.1:c.5453G>A
ENST00000692961.1:c.5911G>A ENSP00000509289.1:p.Glu1971Lys
ENST00000693677.1:c.704+131G>A ENSP00000509779.1:n.704+131G>A
ENST00000420124.4:c.5911G>A MANE Select ENSP00000398837.2:p.Glu1971Lys
ENST00000673918.1:c.5845G>A ENSP00000501283.1:p.Glu1949Lys
ENST00000674114.1:c.3233G>A
ENST00000420124.2:c.5911G>A ENSP00000398837.1:p.Glu1971Lys
NM_014727.2:c.5911G>A NP_055542.1:p.Glu1971Lys
XM_011527561.1:c.5845G>A XP_011525863.1:p.Glu1949Lys
XM_011527562.1:c.5911G>A XP_011525864.1:p.Glu1971Lys
XM_011527563.1:c.5635G>A XP_011525865.1:p.Glu1879Lys
XM_011527561.2:c.5347G>A XP_011525863.2:p.Glu1783Lys
XM_011527562.2:c.5911G>A XP_011525864.1:p.Glu1971Lys
XM_017027544.1:c.5911G>A XP_016883033.1:p.Glu1971Lys
XM_017027545.1:c.5347G>A XP_016883034.1:p.Glu1783Lys
XM_017027546.1:c.2875G>A XP_016883035.1:p.Glu959Lys
NM_014727.3:c.5911G>A MANE Select NP_055542.1:p.Glu1971Lys