Canonical Allele Identifier: CA2034964091

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49024654G= , CM000674.2:g.49024654G=	GRCh38
NC_000012.11:g.49418437G= , CM000674.1:g.49418437G=	GRCh37
NC_000012.10:g.47704704G=	NCBI36
NG_027827.1:g.35671C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681974.1:n.648C=
ENST00000683543.2:c.15976C=	ENSP00000506726.1:p.Leu5326=
ENST00000683863.1:n.1691C=
ENST00000684428.1:c.511C=	ENSP00000507433.1:p.Leu171=
ENST00000684755.1:n.511C=
ENST00000685024.1:c.1130C=
ENST00000685166.1:c.15985C=	ENSP00000509386.1:p.Leu5329=
ENST00000688411.1:c.453C=	ENSP00000510146.1:n.453C=
ENST00000691932.1:c.55C=	ENSP00000509037.1:p.Leu19=
ENST00000692637.1:c.15973C=	ENSP00000509666.1:p.Leu5325=
ENST00000301067.12:c.15976C= MANE Select	ENSP00000301067.7:p.Leu5326=
ENST00000301067.11:c.15976C=	ENSP00000301067.7:p.Leu5326=
NM_003482.3:c.15976C=	NP_003473.3:p.Leu5326=
XM_005269162.3:c.15976C=	XP_005269219.1:p.Leu5326=
XM_006719614.2:c.15985C=	XP_006719677.1:p.Leu5329=
XM_006719616.2:c.15973C=	XP_006719679.1:p.Leu5325=
XM_011538770.1:c.15985C=	XP_011537072.1:p.Leu5329=
XM_011538771.1:c.15982C=	XP_011537073.1:p.Leu5328=
XM_011538772.1:c.15976C=	XP_011537074.1:p.Leu5326=
XM_011538773.1:c.15973C=	XP_011537075.1:p.Leu5325=
XM_011538774.1:c.15964C=	XP_011537076.1:p.Leu5322=
XM_011538775.1:c.15919C=	XP_011537077.1:p.Leu5307=
XM_011538776.1:c.15892C=	XP_011537078.1:p.Leu5298=
XM_005269162.4:c.15976C=	XP_005269219.1:p.Leu5326=
XM_006719614.4:c.15985C=	XP_006719677.1:p.Leu5329=
XM_006719616.3:c.15973C=	XP_006719679.1:p.Leu5325=
XM_011538770.2:c.15985C=	XP_011537072.1:p.Leu5329=
XM_011538771.2:c.15982C=	XP_011537073.1:p.Leu5328=
XM_011538772.2:c.15976C=	XP_011537074.1:p.Leu5326=
XM_011538773.2:c.15973C=	XP_011537075.1:p.Leu5325=
XM_011538774.2:c.15964C=	XP_011537076.1:p.Leu5322=
XM_011538776.2:c.15892C=	XP_011537078.1:p.Leu5298=
XR_001748874.1:n.16153C=
NM_003482.4:c.15976C= MANE Select	NP_003473.3:p.Leu5326=