Canonical Allele Identifier: CA2333793075

Gene: KMT2B

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35729978C= , CM000681.2:g.35729978C=	GRCh38
NC_000019.9:g.36220879C= , CM000681.1:g.36220879C=	GRCh37
NC_000019.8:g.40912719C=	NCBI36
NG_052906.1:g.16960C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673918.2:c.4863C=	ENSP00000501283.1:p.Leu1621=
ENST00000674114.2:c.2470C=	ENSP00000501039.2:n.2470C=
ENST00000684977.1:c.147C=	ENSP00000509384.1:p.Leu49=
ENST00000685168.1:c.355C=
ENST00000689544.1:n.82C=
ENST00000691421.1:c.150C=	ENSP00000508674.1:p.Leu50=
ENST00000691855.1:c.4471C=
ENST00000692961.1:c.4929C=	ENSP00000509289.1:p.Leu1643=
ENST00000420124.4:c.4929C= MANE Select	ENSP00000398837.2:p.Leu1643=
ENST00000673918.1:c.4863C=	ENSP00000501283.1:p.Leu1621=
ENST00000674114.1:c.2251C=
ENST00000420124.2:c.4929C=	ENSP00000398837.1:p.Leu1643=
NM_014727.2:c.4929C=	NP_055542.1:p.Leu1643=
XM_011527561.1:c.4863C=	XP_011525863.1:p.Leu1621=
XM_011527562.1:c.4929C=	XP_011525864.1:p.Leu1643=
XM_011527563.1:c.4653C=	XP_011525865.1:p.Leu1551=
XM_011527561.2:c.4365C=	XP_011525863.2:p.Leu1455=
XM_011527562.2:c.4929C=	XP_011525864.1:p.Leu1643=
XM_017027544.1:c.4929C=	XP_016883033.1:p.Leu1643=
XM_017027545.1:c.4365C=	XP_016883034.1:p.Leu1455=
XM_017027546.1:c.1893C=	XP_016883035.1:p.Leu631=
NM_014727.3:c.4929C= MANE Select	NP_055542.1:p.Leu1643=