Canonical Allele Identifier: CA405438288

Gene: KMT2B

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35737893C>G , CM000681.2:g.35737893C>G	GRCh38
NC_000019.9:g.36228794C>G , CM000681.1:g.36228794C>G	GRCh37
NC_000019.8:g.40920634C>G	NCBI36
NG_052906.1:g.24875C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_014727.3:c.7693C>G MANE Select	NP_055542.1:p.Arg2565Gly
ENST00000420124.4:c.7693C>G MANE Select	ENSP00000398837.2:p.Arg2565Gly
NM_014727.2:c.7693C>G	NP_055542.1:p.Arg2565Gly
ENST00000420124.2:c.7693C>G	ENSP00000398837.1:p.Arg2565Gly
ENST00000585476.5:n.2088C>G
ENST00000586308.1:n.311C>G
ENST00000592092.2:n.2163C>G
ENST00000673918.1:c.7627C>G	ENSP00000501283.1:p.Arg2543Gly
ENST00000673918.2:c.7627C>G	ENSP00000501283.1:p.Arg2543Gly
ENST00000674101.1:c.581C>G
ENST00000674114.1:c.5015C>G
ENST00000674114.2:c.5234C>G	ENSP00000501039.2:n.5234C>G
ENST00000686920.1:c.143C>G
ENST00000689544.1:n.2934C>G
ENST00000691855.1:c.7235C>G
ENST00000692961.1:c.*378C>G	ENSP00000509289.1:n.*378C>G
ENST00000693161.1:c.356C>G
ENST00000693175.1:c.742C>G
ENST00000693677.1:c.1438C>G	ENSP00000509779.1:p.Arg480Gly
XM_011527561.1:c.7627C>G	XP_011525863.1:p.Arg2543Gly
XM_011527561.2:c.7129C>G	XP_011525863.2:p.Arg2377Gly
XM_011527562.1:c.7740C>G	XP_011525864.1:p.Cys2580Trp
XM_011527562.2:c.7740C>G	XP_011525864.1:p.Cys2580Trp
XM_011527563.1:c.7417C>G	XP_011525865.1:p.Arg2473Gly
XM_017027544.1:c.7603C>G	XP_016883033.1:p.Arg2535Gly
XM_017027545.1:c.7129C>G	XP_016883034.1:p.Arg2377Gly
XM_017027546.1:c.4657C>G	XP_016883035.1:p.Arg1553Gly