Canonical Allele Identifier: CA2333794380

Gene: KMT2B

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35732578C= , CM000681.2:g.35732578C=	GRCh38
NC_000019.9:g.36223479C= , CM000681.1:g.36223479C=	GRCh37
NC_000019.8:g.40915319C=	NCBI36
NG_052906.1:g.19560C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.335C=
ENST00000673918.2:c.5963C=	ENSP00000501283.1:p.Ala1988=
ENST00000674114.2:c.3570C=	ENSP00000501039.2:n.3570C=
ENST00000684977.1:c.1247C=	ENSP00000509384.1:p.Ala416=
ENST00000689544.1:n.1182C=
ENST00000691421.1:c.1250C=	ENSP00000508674.1:p.Ala417=
ENST00000691855.1:c.5571C=
ENST00000692961.1:c.6029C=	ENSP00000509289.1:p.Ala2010=
ENST00000693677.1:c.704+249C=	ENSP00000509779.1:n.704+249C=
ENST00000420124.4:c.6029C= MANE Select	ENSP00000398837.2:p.Ala2010=
ENST00000673918.1:c.5963C=	ENSP00000501283.1:p.Ala1988=
ENST00000674114.1:c.3351C=
ENST00000420124.2:c.6029C=	ENSP00000398837.1:p.Ala2010=
NM_014727.2:c.6029C=	NP_055542.1:p.Ala2010=
XM_011527561.1:c.5963C=	XP_011525863.1:p.Ala1988=
XM_011527562.1:c.6029C=	XP_011525864.1:p.Ala2010=
XM_011527563.1:c.5753C=	XP_011525865.1:p.Ala1918=
XM_011527561.2:c.5465C=	XP_011525863.2:p.Ala1822=
XM_011527562.2:c.6029C=	XP_011525864.1:p.Ala2010=
XM_017027544.1:c.6029C=	XP_016883033.1:p.Ala2010=
XM_017027545.1:c.5465C=	XP_016883034.1:p.Ala1822=
XM_017027546.1:c.2993C=	XP_016883035.1:p.Ala998=
NM_014727.3:c.6029C= MANE Select	NP_055542.1:p.Ala2010=