Canonical Allele Identifier: CA2034959441

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49039452G= , CM000674.2:g.49039452G=	GRCh38
NC_000012.11:g.49433235G= , CM000674.1:g.49433235G=	GRCh37
NC_000012.10:g.47719502G=	NCBI36
NG_027827.1:g.20873C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683543.2:c.8212C=	ENSP00000506726.1:p.Pro2738=
ENST00000685166.1:c.8221C=	ENSP00000509386.1:p.Pro2741=
ENST00000689060.1:c.2231C=
ENST00000689143.1:c.1885C=	ENSP00000509839.1:p.Pro629=
ENST00000689944.1:c.2321C=
ENST00000692637.1:c.8209C=	ENSP00000509666.1:p.Pro2737=
ENST00000301067.12:c.8212C= MANE Select	ENSP00000301067.7:p.Pro2738=
ENST00000301067.11:c.8212C=	ENSP00000301067.7:p.Pro2738=
NM_003482.3:c.8212C=	NP_003473.3:p.Pro2738=
XM_005269162.3:c.8212C=	XP_005269219.1:p.Pro2738=
XM_006719614.2:c.8221C=	XP_006719677.1:p.Pro2741=
XM_006719616.2:c.8209C=	XP_006719679.1:p.Pro2737=
XM_011538770.1:c.8221C=	XP_011537072.1:p.Pro2741=
XM_011538771.1:c.8218C=	XP_011537073.1:p.Pro2740=
XM_011538772.1:c.8212C=	XP_011537074.1:p.Pro2738=
XM_011538773.1:c.8209C=	XP_011537075.1:p.Pro2737=
XM_011538774.1:c.8200C=	XP_011537076.1:p.Pro2734=
XM_011538775.1:c.8221C=	XP_011537077.1:p.Pro2741=
XM_011538776.1:c.8128C=	XP_011537078.1:p.Pro2710=
XR_944740.1:n.10541C=
XM_005269162.4:c.8212C=	XP_005269219.1:p.Pro2738=
XM_006719614.4:c.8221C=	XP_006719677.1:p.Pro2741=
XM_006719616.3:c.8209C=	XP_006719679.1:p.Pro2737=
XM_011538770.2:c.8221C=	XP_011537072.1:p.Pro2741=
XM_011538771.2:c.8218C=	XP_011537073.1:p.Pro2740=
XM_011538772.2:c.8212C=	XP_011537074.1:p.Pro2738=
XM_011538773.2:c.8209C=	XP_011537075.1:p.Pro2737=
XM_011538774.2:c.8200C=	XP_011537076.1:p.Pro2734=
XM_011538776.2:c.8128C=	XP_011537078.1:p.Pro2710=
XR_001748874.1:n.9530C=
NM_003482.4:c.8212C= MANE Select	NP_003473.3:p.Pro2738=