Canonical Allele Identifier: CA384685268
Community Standard Title: NM_003482.4(KMT2D):c.15731A>G (p.Lys5244Arg)
Gene: KMT2D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49026235T>C , CM000674.2:g.49026235T>C GRCh38
NC_000012.11:g.49420018T>C , CM000674.1:g.49420018T>C GRCh37
NC_000012.10:g.47706285T>C NCBI36
NG_027827.1:g.34090A>G

Transcript Alleles

HGVS Amino-acid Change
NM_003482.4:c.15731A>G MANE Select NP_003473.3:p.Lys5244Arg
ENST00000301067.12:c.15731A>G MANE Select ENSP00000301067.7:p.Lys5244Arg
NM_003482.3:c.15731A>G NP_003473.3:p.Lys5244Arg
ENST00000301067.11:c.15731A>G ENSP00000301067.7:p.Lys5244Arg
ENST00000683543.2:c.15731A>G ENSP00000506726.1:p.Lys5244Arg
ENST00000683863.1:n.211A>G
ENST00000684428.1:c.266A>G ENSP00000507433.1:p.Lys89Arg
ENST00000684755.1:n.266A>G
ENST00000685024.1:c.856A>G
ENST00000685166.1:c.15740A>G ENSP00000509386.1:p.Lys5247Arg
ENST00000688411.1:c.262-1289A>G ENSP00000510146.1:n.262-1289A>G
ENST00000691463.1:c.1117A>G ENSP00000510624.1:n.1117A>G
ENST00000692637.1:c.15728A>G ENSP00000509666.1:p.Lys5243Arg
XM_005269162.3:c.15731A>G XP_005269219.1:p.Lys5244Arg
XM_005269162.4:c.15731A>G XP_005269219.1:p.Lys5244Arg
XM_006719614.2:c.15740A>G XP_006719677.1:p.Lys5247Arg
XM_006719614.4:c.15740A>G XP_006719677.1:p.Lys5247Arg
XM_006719616.2:c.15728A>G XP_006719679.1:p.Lys5243Arg
XM_006719616.3:c.15728A>G XP_006719679.1:p.Lys5243Arg
XM_011538770.1:c.15740A>G XP_011537072.1:p.Lys5247Arg
XM_011538770.2:c.15740A>G XP_011537072.1:p.Lys5247Arg
XM_011538771.1:c.15737A>G XP_011537073.1:p.Lys5246Arg
XM_011538771.2:c.15737A>G XP_011537073.1:p.Lys5246Arg
XM_011538772.1:c.15731A>G XP_011537074.1:p.Lys5244Arg
XM_011538772.2:c.15731A>G XP_011537074.1:p.Lys5244Arg
XM_011538773.1:c.15728A>G XP_011537075.1:p.Lys5243Arg
XM_011538773.2:c.15728A>G XP_011537075.1:p.Lys5243Arg
XM_011538774.1:c.15719A>G XP_011537076.1:p.Lys5240Arg
XM_011538774.2:c.15719A>G XP_011537076.1:p.Lys5240Arg
XM_011538775.1:c.15674A>G XP_011537077.1:p.Lys5225Arg
XM_011538776.1:c.15647A>G XP_011537078.1:p.Lys5216Arg
XM_011538776.2:c.15647A>G XP_011537078.1:p.Lys5216Arg
XR_001748874.1:n.15962-1289A>G
XR_944740.1:n.16973-1289A>G