Canonical Allele Identifier: CA2034947905

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49042189A= , CM000674.2:g.49042189A=	GRCh38
NC_000012.11:g.49435972A= , CM000674.1:g.49435972A=	GRCh37
NC_000012.10:g.47722239A=	NCBI36
NG_027827.1:g.18136T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650290.2:c.800T=
ENST00000683543.2:c.6009T=	ENSP00000506726.1:p.Leu2003=
ENST00000685166.1:c.6018T=	ENSP00000509386.1:p.Leu2006=
ENST00000689060.1:c.121T=
ENST00000689944.1:c.121T=
ENST00000692637.1:c.6006T=	ENSP00000509666.1:p.Leu2002=
ENST00000301067.12:c.6009T= MANE Select	ENSP00000301067.7:p.Leu2003=
ENST00000301067.11:c.6009T=	ENSP00000301067.7:p.Leu2003=
NM_003482.3:c.6009T=	NP_003473.3:p.Leu2003=
XM_005269162.3:c.6009T=	XP_005269219.1:p.Leu2003=
XM_006719614.2:c.6018T=	XP_006719677.1:p.Leu2006=
XM_006719616.2:c.6006T=	XP_006719679.1:p.Leu2002=
XM_011538770.1:c.6018T=	XP_011537072.1:p.Leu2006=
XM_011538771.1:c.6015T=	XP_011537073.1:p.Leu2005=
XM_011538772.1:c.6009T=	XP_011537074.1:p.Leu2003=
XM_011538773.1:c.6006T=	XP_011537075.1:p.Leu2002=
XM_011538774.1:c.5997T=	XP_011537076.1:p.Leu1999=
XM_011538775.1:c.6018T=	XP_011537077.1:p.Leu2006=
XM_011538776.1:c.6018T=	XP_011537078.1:p.Leu2006=
XR_944740.1:n.8338T=
XM_005269162.4:c.6009T=	XP_005269219.1:p.Leu2003=
XM_006719614.4:c.6018T=	XP_006719677.1:p.Leu2006=
XM_006719616.3:c.6006T=	XP_006719679.1:p.Leu2002=
XM_011538770.2:c.6018T=	XP_011537072.1:p.Leu2006=
XM_011538771.2:c.6015T=	XP_011537073.1:p.Leu2005=
XM_011538772.2:c.6009T=	XP_011537074.1:p.Leu2003=
XM_011538773.2:c.6006T=	XP_011537075.1:p.Leu2002=
XM_011538774.2:c.5997T=	XP_011537076.1:p.Leu1999=
XM_011538776.2:c.6018T=	XP_011537078.1:p.Leu2006=
XR_001748874.1:n.7327T=
NM_003482.4:c.6009T= MANE Select	NP_003473.3:p.Leu2003=