Canonical Allele Identifier: CA2034947989

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49042254A= , CM000674.2:g.49042254A=	GRCh38
NC_000012.11:g.49436037A= , CM000674.1:g.49436037A=	GRCh37
NC_000012.10:g.47722304A=	NCBI36
NG_027827.1:g.18071T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650290.2:c.735T=
ENST00000683543.2:c.5944T=	ENSP00000506726.1:p.Ser1982=
ENST00000685166.1:c.5953T=	ENSP00000509386.1:p.Ser1985=
ENST00000689060.1:c.56T=
ENST00000689944.1:c.56T=
ENST00000692637.1:c.5941T=	ENSP00000509666.1:p.Ser1981=
ENST00000301067.12:c.5944T= MANE Select	ENSP00000301067.7:p.Ser1982=
ENST00000301067.11:c.5944T=	ENSP00000301067.7:p.Ser1982=
NM_003482.3:c.5944T=	NP_003473.3:p.Ser1982=
XM_005269162.3:c.5944T=	XP_005269219.1:p.Ser1982=
XM_006719614.2:c.5953T=	XP_006719677.1:p.Ser1985=
XM_006719616.2:c.5941T=	XP_006719679.1:p.Ser1981=
XM_011538770.1:c.5953T=	XP_011537072.1:p.Ser1985=
XM_011538771.1:c.5950T=	XP_011537073.1:p.Ser1984=
XM_011538772.1:c.5944T=	XP_011537074.1:p.Ser1982=
XM_011538773.1:c.5941T=	XP_011537075.1:p.Ser1981=
XM_011538774.1:c.5932T=	XP_011537076.1:p.Ser1978=
XM_011538775.1:c.5953T=	XP_011537077.1:p.Ser1985=
XM_011538776.1:c.5953T=	XP_011537078.1:p.Ser1985=
XR_944740.1:n.8273T=
XM_005269162.4:c.5944T=	XP_005269219.1:p.Ser1982=
XM_006719614.4:c.5953T=	XP_006719677.1:p.Ser1985=
XM_006719616.3:c.5941T=	XP_006719679.1:p.Ser1981=
XM_011538770.2:c.5953T=	XP_011537072.1:p.Ser1985=
XM_011538771.2:c.5950T=	XP_011537073.1:p.Ser1984=
XM_011538772.2:c.5944T=	XP_011537074.1:p.Ser1982=
XM_011538773.2:c.5941T=	XP_011537075.1:p.Ser1981=
XM_011538774.2:c.5932T=	XP_011537076.1:p.Ser1978=
XM_011538776.2:c.5953T=	XP_011537078.1:p.Ser1985=
XR_001748874.1:n.7262T=
NM_003482.4:c.5944T= MANE Select	NP_003473.3:p.Ser1982=