Canonical Allele Identifier: CA405436125

Gene: KMT2B

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35736962C>T , CM000681.2:g.35736962C>T	GRCh38
NC_000019.9:g.36227863C>T , CM000681.1:g.36227863C>T	GRCh37
NC_000019.8:g.40919703C>T	NCBI36
NG_052906.1:g.23944C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014727.3:c.7348C>T MANE Select	NP_055542.1:p.Arg2450Ter
ENST00000420124.4:c.7348C>T MANE Select	ENSP00000398837.2:p.Arg2450Ter
NM_014727.2:c.7348C>T	NP_055542.1:p.Arg2450Ter
ENST00000420124.2:c.7348C>T	ENSP00000398837.1:p.Arg2450Ter
ENST00000585476.5:n.1743C>T
ENST00000592092.1:n.728C>T
ENST00000592092.2:n.1818C>T
ENST00000673918.1:c.7282C>T	ENSP00000501283.1:p.Arg2428Ter
ENST00000673918.2:c.7282C>T	ENSP00000501283.1:p.Arg2428Ter
ENST00000674101.1:c.189C>T
ENST00000674114.1:c.4670C>T
ENST00000674114.2:c.4889C>T	ENSP00000501039.2:n.4889C>T
ENST00000689544.1:n.2589C>T
ENST00000689929.1:c.260C>T
ENST00000691855.1:c.6890C>T
ENST00000692961.1:c.*33C>T	ENSP00000509289.1:n.*33C>T
ENST00000693161.1:c.189C>T
ENST00000693175.1:c.397C>T
ENST00000693677.1:c.1093C>T	ENSP00000509779.1:p.Arg365Ter
XM_011527561.1:c.7282C>T	XP_011525863.1:p.Arg2428Ter
XM_011527561.2:c.6784C>T	XP_011525863.2:p.Arg2262Ter
XM_011527562.1:c.7348C>T	XP_011525864.1:p.Arg2450Ter
XM_011527562.2:c.7348C>T	XP_011525864.1:p.Arg2450Ter
XM_011527563.1:c.7072C>T	XP_011525865.1:p.Arg2358Ter
XM_017027544.1:c.7258C>T	XP_016883033.1:p.Arg2420Ter
XM_017027545.1:c.6784C>T	XP_016883034.1:p.Arg2262Ter
XM_017027546.1:c.4312C>T	XP_016883035.1:p.Arg1438Ter