Canonical Allele Identifier: CA2034964090

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49024652A= , CM000674.2:g.49024652A=	GRCh38
NC_000012.11:g.49418435A= , CM000674.1:g.49418435A=	GRCh37
NC_000012.10:g.47704702A=	NCBI36
NG_027827.1:g.35673T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681974.1:n.650T=
ENST00000683543.2:c.15978T=	ENSP00000506726.1:p.Leu5326=
ENST00000683863.1:n.1693T=
ENST00000684428.1:c.513T=	ENSP00000507433.1:p.Leu171=
ENST00000684755.1:n.513T=
ENST00000685024.1:c.1132T=
ENST00000685166.1:c.15987T=	ENSP00000509386.1:p.Leu5329=
ENST00000688411.1:c.455T=	ENSP00000510146.1:n.455T=
ENST00000691932.1:c.57T=	ENSP00000509037.1:p.Leu19=
ENST00000692637.1:c.15975T=	ENSP00000509666.1:p.Leu5325=
ENST00000301067.12:c.15978T= MANE Select	ENSP00000301067.7:p.Leu5326=
ENST00000301067.11:c.15978T=	ENSP00000301067.7:p.Leu5326=
NM_003482.3:c.15978T=	NP_003473.3:p.Leu5326=
XM_005269162.3:c.15978T=	XP_005269219.1:p.Leu5326=
XM_006719614.2:c.15987T=	XP_006719677.1:p.Leu5329=
XM_006719616.2:c.15975T=	XP_006719679.1:p.Leu5325=
XM_011538770.1:c.15987T=	XP_011537072.1:p.Leu5329=
XM_011538771.1:c.15984T=	XP_011537073.1:p.Leu5328=
XM_011538772.1:c.15978T=	XP_011537074.1:p.Leu5326=
XM_011538773.1:c.15975T=	XP_011537075.1:p.Leu5325=
XM_011538774.1:c.15966T=	XP_011537076.1:p.Leu5322=
XM_011538775.1:c.15921T=	XP_011537077.1:p.Leu5307=
XM_011538776.1:c.15894T=	XP_011537078.1:p.Leu5298=
XM_005269162.4:c.15978T=	XP_005269219.1:p.Leu5326=
XM_006719614.4:c.15987T=	XP_006719677.1:p.Leu5329=
XM_006719616.3:c.15975T=	XP_006719679.1:p.Leu5325=
XM_011538770.2:c.15987T=	XP_011537072.1:p.Leu5329=
XM_011538771.2:c.15984T=	XP_011537073.1:p.Leu5328=
XM_011538772.2:c.15978T=	XP_011537074.1:p.Leu5326=
XM_011538773.2:c.15975T=	XP_011537075.1:p.Leu5325=
XM_011538774.2:c.15966T=	XP_011537076.1:p.Leu5322=
XM_011538776.2:c.15894T=	XP_011537078.1:p.Leu5298=
XR_001748874.1:n.16155T=
NM_003482.4:c.15978T= MANE Select	NP_003473.3:p.Leu5326=