Canonical Allele Identifier: CA6546756

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49038354T>C , CM000674.2:g.49038354T>C	GRCh38
NC_000012.11:g.49432137T>C , CM000674.1:g.49432137T>C	GRCh37
NC_000012.10:g.47718404T>C	NCBI36
NG_027827.1:g.21971A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_003482.4:c.9002A>G MANE Select	NP_003473.3:p.Lys3001Arg
ENST00000301067.12:c.9002A>G MANE Select	ENSP00000301067.7:p.Lys3001Arg
NM_003482.3:c.9002A>G	NP_003473.3:p.Lys3001Arg
ENST00000301067.11:c.9002A>G	ENSP00000301067.7:p.Lys3001Arg
ENST00000683043.1:n.701A>G
ENST00000683543.2:c.9002A>G	ENSP00000506726.1:p.Lys3001Arg
ENST00000685166.1:c.9011A>G	ENSP00000509386.1:p.Lys3004Arg
ENST00000687201.1:c.566A>G	ENSP00000510037.1:p.Lys189Arg
ENST00000689143.1:c.2605A>G	ENSP00000509839.1:n.2605A>G
ENST00000692637.1:c.8999A>G	ENSP00000509666.1:p.Lys3000Arg
ENST00000692841.1:c.566A>G	ENSP00000508711.1:p.Lys189Arg
XM_005269162.3:c.9002A>G	XP_005269219.1:p.Lys3001Arg
XM_005269162.4:c.9002A>G	XP_005269219.1:p.Lys3001Arg
XM_006719614.2:c.9011A>G	XP_006719677.1:p.Lys3004Arg
XM_006719614.4:c.9011A>G	XP_006719677.1:p.Lys3004Arg
XM_006719616.2:c.8999A>G	XP_006719679.1:p.Lys3000Arg
XM_006719616.3:c.8999A>G	XP_006719679.1:p.Lys3000Arg
XM_011538770.1:c.9011A>G	XP_011537072.1:p.Lys3004Arg
XM_011538770.2:c.9011A>G	XP_011537072.1:p.Lys3004Arg
XM_011538771.1:c.9008A>G	XP_011537073.1:p.Lys3003Arg
XM_011538771.2:c.9008A>G	XP_011537073.1:p.Lys3003Arg
XM_011538772.1:c.9002A>G	XP_011537074.1:p.Lys3001Arg
XM_011538772.2:c.9002A>G	XP_011537074.1:p.Lys3001Arg
XM_011538773.1:c.8999A>G	XP_011537075.1:p.Lys3000Arg
XM_011538773.2:c.8999A>G	XP_011537075.1:p.Lys3000Arg
XM_011538774.1:c.8990A>G	XP_011537076.1:p.Lys2997Arg
XM_011538774.2:c.8990A>G	XP_011537076.1:p.Lys2997Arg
XM_011538775.1:c.9011A>G	XP_011537077.1:p.Lys3004Arg
XM_011538776.1:c.8918A>G	XP_011537078.1:p.Lys2973Arg
XM_011538776.2:c.8918A>G	XP_011537078.1:p.Lys2973Arg
XR_001748874.1:n.10320A>G
XR_944740.1:n.11331A>G