Canonical Allele Identifier: CA2034964171

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49024830C= , CM000674.2:g.49024830C=	GRCh38
NC_000012.11:g.49418613C= , CM000674.1:g.49418613C=	GRCh37
NC_000012.10:g.47704880C=	NCBI36
NG_027827.1:g.35495G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681974.1:n.573G=
ENST00000683543.2:c.15901G=	ENSP00000506726.1:p.Val5301=
ENST00000683863.1:n.1616G=
ENST00000684428.1:c.436G=	ENSP00000507433.1:p.Val146=
ENST00000684755.1:n.436G=
ENST00000685024.1:c.1026G=
ENST00000685166.1:c.15910G=	ENSP00000509386.1:p.Val5304=
ENST00000688411.1:c.378G=	ENSP00000510146.1:n.378G=
ENST00000691463.1:c.1287G=	ENSP00000510624.1:n.1287G=
ENST00000692637.1:c.15898G=	ENSP00000509666.1:p.Val5300=
ENST00000301067.12:c.15901G= MANE Select	ENSP00000301067.7:p.Val5301=
ENST00000301067.11:c.15901G=	ENSP00000301067.7:p.Val5301=
NM_003482.3:c.15901G=	NP_003473.3:p.Val5301=
XM_005269162.3:c.15901G=	XP_005269219.1:p.Val5301=
XM_006719614.2:c.15910G=	XP_006719677.1:p.Val5304=
XM_006719616.2:c.15898G=	XP_006719679.1:p.Val5300=
XM_011538770.1:c.15910G=	XP_011537072.1:p.Val5304=
XM_011538771.1:c.15907G=	XP_011537073.1:p.Val5303=
XM_011538772.1:c.15901G=	XP_011537074.1:p.Val5301=
XM_011538773.1:c.15898G=	XP_011537075.1:p.Val5300=
XM_011538774.1:c.15889G=	XP_011537076.1:p.Val5297=
XM_011538775.1:c.15844G=	XP_011537077.1:p.Val5282=
XM_011538776.1:c.15817G=	XP_011537078.1:p.Val5273=
XR_944740.1:n.17089G=
XM_005269162.4:c.15901G=	XP_005269219.1:p.Val5301=
XM_006719614.4:c.15910G=	XP_006719677.1:p.Val5304=
XM_006719616.3:c.15898G=	XP_006719679.1:p.Val5300=
XM_011538770.2:c.15910G=	XP_011537072.1:p.Val5304=
XM_011538771.2:c.15907G=	XP_011537073.1:p.Val5303=
XM_011538772.2:c.15901G=	XP_011537074.1:p.Val5301=
XM_011538773.2:c.15898G=	XP_011537075.1:p.Val5300=
XM_011538774.2:c.15889G=	XP_011537076.1:p.Val5297=
XM_011538776.2:c.15817G=	XP_011537078.1:p.Val5273=
XR_001748874.1:n.16078G=
NM_003482.4:c.15901G= MANE Select	NP_003473.3:p.Val5301=