Canonical Allele Identifier: CA2034946024

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49031925T= , CM000674.2:g.49031925T=	GRCh38
NC_000012.11:g.49425708T= , CM000674.1:g.49425708T=	GRCh37
NC_000012.10:g.47711975T=	NCBI36
NG_027827.1:g.28400A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683543.2:c.12780A=	ENSP00000506726.1:p.Gln4260=
ENST00000685166.1:c.12789A=	ENSP00000509386.1:p.Gln4263=
ENST00000685554.1:c.1752+588A=	ENSP00000508640.1:n.1752+588A=
ENST00000692637.1:c.12777A=	ENSP00000509666.1:p.Gln4259=
ENST00000692841.1:c.4259A=	ENSP00000508711.1:n.4259A=
ENST00000301067.12:c.12780A= MANE Select	ENSP00000301067.7:p.Gln4260=
ENST00000301067.11:c.12780A=	ENSP00000301067.7:p.Gln4260=
NM_003482.3:c.12780A=	NP_003473.3:p.Gln4260=
XM_005269162.3:c.12780A=	XP_005269219.1:p.Gln4260=
XM_006719614.2:c.12789A=	XP_006719677.1:p.Gln4263=
XM_006719616.2:c.12777A=	XP_006719679.1:p.Gln4259=
XM_011538770.1:c.12789A=	XP_011537072.1:p.Gln4263=
XM_011538771.1:c.12786A=	XP_011537073.1:p.Gln4262=
XM_011538772.1:c.12780A=	XP_011537074.1:p.Gln4260=
XM_011538773.1:c.12777A=	XP_011537075.1:p.Gln4259=
XM_011538774.1:c.12768A=	XP_011537076.1:p.Gln4256=
XM_011538775.1:c.12789A=	XP_011537077.1:p.Gln4263=
XM_011538776.1:c.12696A=	XP_011537078.1:p.Gln4232=
XR_944740.1:n.15109A=
XM_005269162.4:c.12780A=	XP_005269219.1:p.Gln4260=
XM_006719614.4:c.12789A=	XP_006719677.1:p.Gln4263=
XM_006719616.3:c.12777A=	XP_006719679.1:p.Gln4259=
XM_011538770.2:c.12789A=	XP_011537072.1:p.Gln4263=
XM_011538771.2:c.12786A=	XP_011537073.1:p.Gln4262=
XM_011538772.2:c.12780A=	XP_011537074.1:p.Gln4260=
XM_011538773.2:c.12777A=	XP_011537075.1:p.Gln4259=
XM_011538774.2:c.12768A=	XP_011537076.1:p.Gln4256=
XM_011538776.2:c.12696A=	XP_011537078.1:p.Gln4232=
XR_001748874.1:n.14098A=
NM_003482.4:c.12780A= MANE Select	NP_003473.3:p.Gln4260=