Canonical Allele Identifier: CA2333793100

Gene: KMT2B

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35730055C= , CM000681.2:g.35730055C=	GRCh38
NC_000019.9:g.36220956C= , CM000681.1:g.36220956C=	GRCh37
NC_000019.8:g.40912796C=	NCBI36
NG_052906.1:g.17037C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673918.2:c.4940C=	ENSP00000501283.1:p.Ala1647=
ENST00000674114.2:c.2547C=	ENSP00000501039.2:n.2547C=
ENST00000684977.1:c.224C=	ENSP00000509384.1:p.Ala75=
ENST00000685168.1:c.432C=
ENST00000689544.1:n.159C=
ENST00000691421.1:c.227C=	ENSP00000508674.1:p.Ala76=
ENST00000691855.1:c.4548C=
ENST00000692961.1:c.5006C=	ENSP00000509289.1:p.Ala1669=
ENST00000420124.4:c.5006C= MANE Select	ENSP00000398837.2:p.Ala1669=
ENST00000673918.1:c.4940C=	ENSP00000501283.1:p.Ala1647=
ENST00000674114.1:c.2328C=
ENST00000420124.2:c.5006C=	ENSP00000398837.1:p.Ala1669=
NM_014727.2:c.5006C=	NP_055542.1:p.Ala1669=
XM_011527561.1:c.4940C=	XP_011525863.1:p.Ala1647=
XM_011527562.1:c.5006C=	XP_011525864.1:p.Ala1669=
XM_011527563.1:c.4730C=	XP_011525865.1:p.Ala1577=
XM_011527561.2:c.4442C=	XP_011525863.2:p.Ala1481=
XM_011527562.2:c.5006C=	XP_011525864.1:p.Ala1669=
XM_017027544.1:c.5006C=	XP_016883033.1:p.Ala1669=
XM_017027545.1:c.4442C=	XP_016883034.1:p.Ala1481=
XM_017027546.1:c.1970C=	XP_016883035.1:p.Ala657=
NM_014727.3:c.5006C= MANE Select	NP_055542.1:p.Ala1669=