Canonical Allele Identifier: CA236648723

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49040979C>G , CM000674.2:g.49040979C>G	GRCh38
NC_000012.11:g.49434762C>G , CM000674.1:g.49434762C>G	GRCh37
NC_000012.10:g.47721029C>G	NCBI36
NG_027827.1:g.19346G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_003482.4:c.6791G>C MANE Select	NP_003473.3:p.Gly2264Ala
ENST00000301067.12:c.6791G>C MANE Select	ENSP00000301067.7:p.Gly2264Ala
NM_003482.3:c.6791G>C	NP_003473.3:p.Gly2264Ala
ENST00000301067.11:c.6791G>C	ENSP00000301067.7:p.Gly2264Ala
ENST00000683543.2:c.6791G>C	ENSP00000506726.1:p.Gly2264Ala
ENST00000685166.1:c.6800G>C	ENSP00000509386.1:p.Gly2267Ala
ENST00000689060.1:c.810G>C
ENST00000689143.1:c.464G>C	ENSP00000509839.1:p.Gly155Ala
ENST00000689944.1:c.900G>C
ENST00000692637.1:c.6788G>C	ENSP00000509666.1:p.Gly2263Ala
XM_005269162.3:c.6791G>C	XP_005269219.1:p.Gly2264Ala
XM_005269162.4:c.6791G>C	XP_005269219.1:p.Gly2264Ala
XM_006719614.2:c.6800G>C	XP_006719677.1:p.Gly2267Ala
XM_006719614.4:c.6800G>C	XP_006719677.1:p.Gly2267Ala
XM_006719616.2:c.6788G>C	XP_006719679.1:p.Gly2263Ala
XM_006719616.3:c.6788G>C	XP_006719679.1:p.Gly2263Ala
XM_011538770.1:c.6800G>C	XP_011537072.1:p.Gly2267Ala
XM_011538770.2:c.6800G>C	XP_011537072.1:p.Gly2267Ala
XM_011538771.1:c.6797G>C	XP_011537073.1:p.Gly2266Ala
XM_011538771.2:c.6797G>C	XP_011537073.1:p.Gly2266Ala
XM_011538772.1:c.6791G>C	XP_011537074.1:p.Gly2264Ala
XM_011538772.2:c.6791G>C	XP_011537074.1:p.Gly2264Ala
XM_011538773.1:c.6788G>C	XP_011537075.1:p.Gly2263Ala
XM_011538773.2:c.6788G>C	XP_011537075.1:p.Gly2263Ala
XM_011538774.1:c.6779G>C	XP_011537076.1:p.Gly2260Ala
XM_011538774.2:c.6779G>C	XP_011537076.1:p.Gly2260Ala
XM_011538775.1:c.6800G>C	XP_011537077.1:p.Gly2267Ala
XM_011538776.1:c.6707G>C	XP_011537078.1:p.Gly2236Ala
XM_011538776.2:c.6707G>C	XP_011537078.1:p.Gly2236Ala
XR_001748874.1:n.8109G>C
XR_944740.1:n.9120G>C