Canonical Allele Identifier: CA2333794590

Gene: KMT2B

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35732973C= , CM000681.2:g.35732973C=	GRCh38
NC_000019.9:g.36223874C= , CM000681.1:g.36223874C=	GRCh37
NC_000019.8:g.40915714C=	NCBI36
NG_052906.1:g.19955C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.730C=
ENST00000673918.2:c.6358C=	ENSP00000501283.1:p.Leu2120=
ENST00000674114.2:c.3965C=	ENSP00000501039.2:n.3965C=
ENST00000684977.1:c.1642C=	ENSP00000509384.1:p.Leu548=
ENST00000689544.1:n.1577C=
ENST00000691421.1:c.1645C=	ENSP00000508674.1:p.Leu549=
ENST00000691855.1:c.5966C=
ENST00000692961.1:c.6424C=	ENSP00000509289.1:p.Leu2142=
ENST00000693677.1:c.705-624C=	ENSP00000509779.1:n.705-624C=
ENST00000420124.4:c.6424C= MANE Select	ENSP00000398837.2:p.Leu2142=
ENST00000673918.1:c.6358C=	ENSP00000501283.1:p.Leu2120=
ENST00000674114.1:c.3746C=
ENST00000420124.2:c.6424C=	ENSP00000398837.1:p.Leu2142=
NM_014727.2:c.6424C=	NP_055542.1:p.Leu2142=
XM_011527561.1:c.6358C=	XP_011525863.1:p.Leu2120=
XM_011527562.1:c.6424C=	XP_011525864.1:p.Leu2142=
XM_011527563.1:c.6148C=	XP_011525865.1:p.Leu2050=
XM_011527561.2:c.5860C=	XP_011525863.2:p.Leu1954=
XM_011527562.2:c.6424C=	XP_011525864.1:p.Leu2142=
XM_017027544.1:c.6424C=	XP_016883033.1:p.Leu2142=
XM_017027545.1:c.5860C=	XP_016883034.1:p.Leu1954=
XM_017027546.1:c.3388C=	XP_016883035.1:p.Leu1130=
NM_014727.3:c.6424C= MANE Select	NP_055542.1:p.Leu2142=