Canonical Allele Identifier: CA6546797

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49038591C>T , CM000674.2:g.49038591C>T	GRCh38
NC_000012.11:g.49432374C>T , CM000674.1:g.49432374C>T	GRCh37
NC_000012.10:g.47718641C>T	NCBI36
NG_027827.1:g.21734G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_003482.4:c.8765G>A MANE Select	NP_003473.3:p.Arg2922Gln
ENST00000301067.12:c.8765G>A MANE Select	ENSP00000301067.7:p.Arg2922Gln
NM_003482.3:c.8765G>A	NP_003473.3:p.Arg2922Gln
ENST00000301067.11:c.8765G>A	ENSP00000301067.7:p.Arg2922Gln
ENST00000549799.1:n.407G>A
ENST00000683043.1:n.464G>A
ENST00000683543.2:c.8765G>A	ENSP00000506726.1:p.Arg2922Gln
ENST00000685166.1:c.8774G>A	ENSP00000509386.1:p.Arg2925Gln
ENST00000687201.1:c.329G>A	ENSP00000510037.1:p.Arg110Gln
ENST00000689143.1:c.2368G>A	ENSP00000509839.1:n.2368G>A
ENST00000692637.1:c.8762G>A	ENSP00000509666.1:p.Arg2921Gln
ENST00000692841.1:c.329G>A	ENSP00000508711.1:p.Arg110Gln
XM_005269162.3:c.8765G>A	XP_005269219.1:p.Arg2922Gln
XM_005269162.4:c.8765G>A	XP_005269219.1:p.Arg2922Gln
XM_006719614.2:c.8774G>A	XP_006719677.1:p.Arg2925Gln
XM_006719614.4:c.8774G>A	XP_006719677.1:p.Arg2925Gln
XM_006719616.2:c.8762G>A	XP_006719679.1:p.Arg2921Gln
XM_006719616.3:c.8762G>A	XP_006719679.1:p.Arg2921Gln
XM_011538770.1:c.8774G>A	XP_011537072.1:p.Arg2925Gln
XM_011538770.2:c.8774G>A	XP_011537072.1:p.Arg2925Gln
XM_011538771.1:c.8771G>A	XP_011537073.1:p.Arg2924Gln
XM_011538771.2:c.8771G>A	XP_011537073.1:p.Arg2924Gln
XM_011538772.1:c.8765G>A	XP_011537074.1:p.Arg2922Gln
XM_011538772.2:c.8765G>A	XP_011537074.1:p.Arg2922Gln
XM_011538773.1:c.8762G>A	XP_011537075.1:p.Arg2921Gln
XM_011538773.2:c.8762G>A	XP_011537075.1:p.Arg2921Gln
XM_011538774.1:c.8753G>A	XP_011537076.1:p.Arg2918Gln
XM_011538774.2:c.8753G>A	XP_011537076.1:p.Arg2918Gln
XM_011538775.1:c.8774G>A	XP_011537077.1:p.Arg2925Gln
XM_011538776.1:c.8681G>A	XP_011537078.1:p.Arg2894Gln
XM_011538776.2:c.8681G>A	XP_011537078.1:p.Arg2894Gln
XR_001748874.1:n.10083G>A
XR_944740.1:n.11094G>A