Canonical Allele Identifier: CA2034964082

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49024618A= , CM000674.2:g.49024618A=	GRCh38
NC_000012.11:g.49418401A= , CM000674.1:g.49418401A=	GRCh37
NC_000012.10:g.47704668A=	NCBI36
NG_027827.1:g.35707T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000681974.1:n.684T=
ENST00000683543.2:c.16012T=	ENSP00000506726.1:p.Cys5338=
ENST00000683863.1:n.1727T=
ENST00000684428.1:c.547T=	ENSP00000507433.1:p.Cys183=
ENST00000684755.1:n.547T=
ENST00000685024.1:c.1166T=
ENST00000685166.1:c.16021T=	ENSP00000509386.1:p.Cys5341=
ENST00000688411.1:c.489T=	ENSP00000510146.1:n.489T=
ENST00000691932.1:c.91T=	ENSP00000509037.1:p.Cys31=
ENST00000692637.1:c.16009T=	ENSP00000509666.1:p.Cys5337=
ENST00000301067.12:c.16012T= MANE Select	ENSP00000301067.7:p.Cys5338=
ENST00000301067.11:c.16012T=	ENSP00000301067.7:p.Cys5338=
ENST00000526209.1:c.7T=	ENSP00000435714.1:p.Cys3=
NM_003482.3:c.16012T=	NP_003473.3:p.Cys5338=
XM_005269162.3:c.16012T=	XP_005269219.1:p.Cys5338=
XM_006719614.2:c.16021T=	XP_006719677.1:p.Cys5341=
XM_006719616.2:c.16009T=	XP_006719679.1:p.Cys5337=
XM_011538770.1:c.16021T=	XP_011537072.1:p.Cys5341=
XM_011538771.1:c.16018T=	XP_011537073.1:p.Cys5340=
XM_011538772.1:c.16012T=	XP_011537074.1:p.Cys5338=
XM_011538773.1:c.16009T=	XP_011537075.1:p.Cys5337=
XM_011538774.1:c.16000T=	XP_011537076.1:p.Cys5334=
XM_011538775.1:c.15955T=	XP_011537077.1:p.Cys5319=
XM_011538776.1:c.15928T=	XP_011537078.1:p.Cys5310=
XM_005269162.4:c.16012T=	XP_005269219.1:p.Cys5338=
XM_006719614.4:c.16021T=	XP_006719677.1:p.Cys5341=
XM_006719616.3:c.16009T=	XP_006719679.1:p.Cys5337=
XM_011538770.2:c.16021T=	XP_011537072.1:p.Cys5341=
XM_011538771.2:c.16018T=	XP_011537073.1:p.Cys5340=
XM_011538772.2:c.16012T=	XP_011537074.1:p.Cys5338=
XM_011538773.2:c.16009T=	XP_011537075.1:p.Cys5337=
XM_011538774.2:c.16000T=	XP_011537076.1:p.Cys5334=
XM_011538776.2:c.15928T=	XP_011537078.1:p.Cys5310=
XR_001748874.1:n.16189T=
NM_003482.4:c.16012T= MANE Select	NP_003473.3:p.Cys5338=