Canonical Allele Identifier: CA6546948

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49039738C>G , CM000674.2:g.49039738C>G	GRCh38
NC_000012.11:g.49433521C>G , CM000674.1:g.49433521C>G	GRCh37
NC_000012.10:g.47719788C>G	NCBI36
NG_027827.1:g.20587G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_003482.4:c.8032G>C MANE Select	NP_003473.3:p.Glu2678Gln
ENST00000301067.12:c.8032G>C MANE Select	ENSP00000301067.7:p.Glu2678Gln
NM_003482.3:c.8032G>C	NP_003473.3:p.Glu2678Gln
ENST00000301067.11:c.8032G>C	ENSP00000301067.7:p.Glu2678Gln
ENST00000683543.2:c.8032G>C	ENSP00000506726.1:p.Glu2678Gln
ENST00000685166.1:c.8041G>C	ENSP00000509386.1:p.Glu2681Gln
ENST00000689060.1:c.2051G>C
ENST00000689143.1:c.1705G>C	ENSP00000509839.1:p.Glu569Gln
ENST00000689944.1:c.2141G>C
ENST00000692637.1:c.8029G>C	ENSP00000509666.1:p.Glu2677Gln
XM_005269162.3:c.8032G>C	XP_005269219.1:p.Glu2678Gln
XM_005269162.4:c.8032G>C	XP_005269219.1:p.Glu2678Gln
XM_006719614.2:c.8041G>C	XP_006719677.1:p.Glu2681Gln
XM_006719614.4:c.8041G>C	XP_006719677.1:p.Glu2681Gln
XM_006719616.2:c.8029G>C	XP_006719679.1:p.Glu2677Gln
XM_006719616.3:c.8029G>C	XP_006719679.1:p.Glu2677Gln
XM_011538770.1:c.8041G>C	XP_011537072.1:p.Glu2681Gln
XM_011538770.2:c.8041G>C	XP_011537072.1:p.Glu2681Gln
XM_011538771.1:c.8038G>C	XP_011537073.1:p.Glu2680Gln
XM_011538771.2:c.8038G>C	XP_011537073.1:p.Glu2680Gln
XM_011538772.1:c.8032G>C	XP_011537074.1:p.Glu2678Gln
XM_011538772.2:c.8032G>C	XP_011537074.1:p.Glu2678Gln
XM_011538773.1:c.8029G>C	XP_011537075.1:p.Glu2677Gln
XM_011538773.2:c.8029G>C	XP_011537075.1:p.Glu2677Gln
XM_011538774.1:c.8020G>C	XP_011537076.1:p.Glu2674Gln
XM_011538774.2:c.8020G>C	XP_011537076.1:p.Glu2674Gln
XM_011538775.1:c.8041G>C	XP_011537077.1:p.Glu2681Gln
XM_011538776.1:c.7948G>C	XP_011537078.1:p.Glu2650Gln
XM_011538776.2:c.7948G>C	XP_011537078.1:p.Glu2650Gln
XR_001748874.1:n.9350G>C
XR_944740.1:n.10361G>C