Canonical Allele Identifier: CA2034959572

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49039515G= , CM000674.2:g.49039515G=	GRCh38
NC_000012.11:g.49433298G= , CM000674.1:g.49433298G=	GRCh37
NC_000012.10:g.47719565G=	NCBI36
NG_027827.1:g.20810C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683543.2:c.8149C=	ENSP00000506726.1:p.Pro2717=
ENST00000685166.1:c.8158C=	ENSP00000509386.1:p.Pro2720=
ENST00000689060.1:c.2168C=
ENST00000689143.1:c.1822C=	ENSP00000509839.1:p.Pro608=
ENST00000689944.1:c.2258C=
ENST00000692637.1:c.8146C=	ENSP00000509666.1:p.Pro2716=
ENST00000301067.12:c.8149C= MANE Select	ENSP00000301067.7:p.Pro2717=
ENST00000301067.11:c.8149C=	ENSP00000301067.7:p.Pro2717=
NM_003482.3:c.8149C=	NP_003473.3:p.Pro2717=
XM_005269162.3:c.8149C=	XP_005269219.1:p.Pro2717=
XM_006719614.2:c.8158C=	XP_006719677.1:p.Pro2720=
XM_006719616.2:c.8146C=	XP_006719679.1:p.Pro2716=
XM_011538770.1:c.8158C=	XP_011537072.1:p.Pro2720=
XM_011538771.1:c.8155C=	XP_011537073.1:p.Pro2719=
XM_011538772.1:c.8149C=	XP_011537074.1:p.Pro2717=
XM_011538773.1:c.8146C=	XP_011537075.1:p.Pro2716=
XM_011538774.1:c.8137C=	XP_011537076.1:p.Pro2713=
XM_011538775.1:c.8158C=	XP_011537077.1:p.Pro2720=
XM_011538776.1:c.8065C=	XP_011537078.1:p.Pro2689=
XR_944740.1:n.10478C=
XM_005269162.4:c.8149C=	XP_005269219.1:p.Pro2717=
XM_006719614.4:c.8158C=	XP_006719677.1:p.Pro2720=
XM_006719616.3:c.8146C=	XP_006719679.1:p.Pro2716=
XM_011538770.2:c.8158C=	XP_011537072.1:p.Pro2720=
XM_011538771.2:c.8155C=	XP_011537073.1:p.Pro2719=
XM_011538772.2:c.8149C=	XP_011537074.1:p.Pro2717=
XM_011538773.2:c.8146C=	XP_011537075.1:p.Pro2716=
XM_011538774.2:c.8137C=	XP_011537076.1:p.Pro2713=
XM_011538776.2:c.8065C=	XP_011537078.1:p.Pro2689=
XR_001748874.1:n.9467C=
NM_003482.4:c.8149C= MANE Select	NP_003473.3:p.Pro2717=