Canonical Allele Identifier: CA2034964112

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49024706C= , CM000674.2:g.49024706C=	GRCh38
NC_000012.11:g.49418489C= , CM000674.1:g.49418489C=	GRCh37
NC_000012.10:g.47704756C=	NCBI36
NG_027827.1:g.35619G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681974.1:n.596G=
ENST00000683543.2:c.15924G=	ENSP00000506726.1:p.Leu5308=
ENST00000683863.1:n.1639G=
ENST00000684428.1:c.459G=	ENSP00000507433.1:p.Leu153=
ENST00000684755.1:n.459G=
ENST00000685024.1:c.1078G=
ENST00000685166.1:c.15933G=	ENSP00000509386.1:p.Leu5311=
ENST00000688411.1:c.401G=	ENSP00000510146.1:n.401G=
ENST00000691932.1:c.3G=	ENSP00000509037.1:p.Leu1=
ENST00000692637.1:c.15921G=	ENSP00000509666.1:p.Leu5307=
ENST00000301067.12:c.15924G= MANE Select	ENSP00000301067.7:p.Leu5308=
ENST00000301067.11:c.15924G=	ENSP00000301067.7:p.Leu5308=
NM_003482.3:c.15924G=	NP_003473.3:p.Leu5308=
XM_005269162.3:c.15924G=	XP_005269219.1:p.Leu5308=
XM_006719614.2:c.15933G=	XP_006719677.1:p.Leu5311=
XM_006719616.2:c.15921G=	XP_006719679.1:p.Leu5307=
XM_011538770.1:c.15933G=	XP_011537072.1:p.Leu5311=
XM_011538771.1:c.15930G=	XP_011537073.1:p.Leu5310=
XM_011538772.1:c.15924G=	XP_011537074.1:p.Leu5308=
XM_011538773.1:c.15921G=	XP_011537075.1:p.Leu5307=
XM_011538774.1:c.15912G=	XP_011537076.1:p.Leu5304=
XM_011538775.1:c.15867G=	XP_011537077.1:p.Leu5289=
XM_011538776.1:c.15840G=	XP_011537078.1:p.Leu5280=
XR_944740.1:n.17112G=
XM_005269162.4:c.15924G=	XP_005269219.1:p.Leu5308=
XM_006719614.4:c.15933G=	XP_006719677.1:p.Leu5311=
XM_006719616.3:c.15921G=	XP_006719679.1:p.Leu5307=
XM_011538770.2:c.15933G=	XP_011537072.1:p.Leu5311=
XM_011538771.2:c.15930G=	XP_011537073.1:p.Leu5310=
XM_011538772.2:c.15924G=	XP_011537074.1:p.Leu5308=
XM_011538773.2:c.15921G=	XP_011537075.1:p.Leu5307=
XM_011538774.2:c.15912G=	XP_011537076.1:p.Leu5304=
XM_011538776.2:c.15840G=	XP_011537078.1:p.Leu5280=
XR_001748874.1:n.16101G=
NM_003482.4:c.15924G= MANE Select	NP_003473.3:p.Leu5308=