Canonical Allele Identifier: CA2034964163

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49024814T= , CM000674.2:g.49024814T=	GRCh38
NC_000012.11:g.49418597T= , CM000674.1:g.49418597T=	GRCh37
NC_000012.10:g.47704864T=	NCBI36
NG_027827.1:g.35511A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681974.1:n.589A=
ENST00000683543.2:c.15917A=	ENSP00000506726.1:p.Glu5306=
ENST00000683863.1:n.1632A=
ENST00000684428.1:c.452A=	ENSP00000507433.1:p.Glu151=
ENST00000684755.1:n.452A=
ENST00000685024.1:c.1042A=
ENST00000685166.1:c.15926A=	ENSP00000509386.1:p.Glu5309=
ENST00000688411.1:c.394A=	ENSP00000510146.1:n.394A=
ENST00000691463.1:c.1303A=	ENSP00000510624.1:n.1303A=
ENST00000692637.1:c.15914A=	ENSP00000509666.1:p.Glu5305=
ENST00000301067.12:c.15917A= MANE Select	ENSP00000301067.7:p.Glu5306=
ENST00000301067.11:c.15917A=	ENSP00000301067.7:p.Glu5306=
NM_003482.3:c.15917A=	NP_003473.3:p.Glu5306=
XM_005269162.3:c.15917A=	XP_005269219.1:p.Glu5306=
XM_006719614.2:c.15926A=	XP_006719677.1:p.Glu5309=
XM_006719616.2:c.15914A=	XP_006719679.1:p.Glu5305=
XM_011538770.1:c.15926A=	XP_011537072.1:p.Glu5309=
XM_011538771.1:c.15923A=	XP_011537073.1:p.Glu5308=
XM_011538772.1:c.15917A=	XP_011537074.1:p.Glu5306=
XM_011538773.1:c.15914A=	XP_011537075.1:p.Glu5305=
XM_011538774.1:c.15905A=	XP_011537076.1:p.Glu5302=
XM_011538775.1:c.15860A=	XP_011537077.1:p.Glu5287=
XM_011538776.1:c.15833A=	XP_011537078.1:p.Glu5278=
XR_944740.1:n.17105A=
XM_005269162.4:c.15917A=	XP_005269219.1:p.Glu5306=
XM_006719614.4:c.15926A=	XP_006719677.1:p.Glu5309=
XM_006719616.3:c.15914A=	XP_006719679.1:p.Glu5305=
XM_011538770.2:c.15926A=	XP_011537072.1:p.Glu5309=
XM_011538771.2:c.15923A=	XP_011537073.1:p.Glu5308=
XM_011538772.2:c.15917A=	XP_011537074.1:p.Glu5306=
XM_011538773.2:c.15914A=	XP_011537075.1:p.Glu5305=
XM_011538774.2:c.15905A=	XP_011537076.1:p.Glu5302=
XM_011538776.2:c.15833A=	XP_011537078.1:p.Glu5278=
XR_001748874.1:n.16094A=
NM_003482.4:c.15917A= MANE Select	NP_003473.3:p.Glu5306=