Canonical Allele Identifier: CA384681730
Gene: KMT2D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49024663G>C , CM000674.2:g.49024663G>C GRCh38
NC_000012.11:g.49418446G>C , CM000674.1:g.49418446G>C GRCh37
NC_000012.10:g.47704713G>C NCBI36
NG_027827.1:g.35662C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000681974.1:n.639C>G
ENST00000683543.2:c.15967C>G ENSP00000506726.1:p.Arg5323Gly
ENST00000683863.1:n.1682C>G
ENST00000684428.1:c.502C>G ENSP00000507433.1:p.Arg168Gly
ENST00000684755.1:n.502C>G
ENST00000685024.1:c.1121C>G
ENST00000685166.1:c.15976C>G ENSP00000509386.1:p.Arg5326Gly
ENST00000688411.1:c.444C>G ENSP00000510146.1:n.444C>G
ENST00000691932.1:c.46C>G ENSP00000509037.1:p.Arg16Gly
ENST00000692637.1:c.15964C>G ENSP00000509666.1:p.Arg5322Gly
ENST00000301067.12:c.15967C>G MANE Select ENSP00000301067.7:p.Arg5323Gly
ENST00000301067.11:c.15967C>G ENSP00000301067.7:p.Arg5323Gly
NM_003482.3:c.15967C>G NP_003473.3:p.Arg5323Gly
XM_005269162.3:c.15967C>G XP_005269219.1:p.Arg5323Gly
XM_006719614.2:c.15976C>G XP_006719677.1:p.Arg5326Gly
XM_006719616.2:c.15964C>G XP_006719679.1:p.Arg5322Gly
XM_011538770.1:c.15976C>G XP_011537072.1:p.Arg5326Gly
XM_011538771.1:c.15973C>G XP_011537073.1:p.Arg5325Gly
XM_011538772.1:c.15967C>G XP_011537074.1:p.Arg5323Gly
XM_011538773.1:c.15964C>G XP_011537075.1:p.Arg5322Gly
XM_011538774.1:c.15955C>G XP_011537076.1:p.Arg5319Gly
XM_011538775.1:c.15910C>G XP_011537077.1:p.Arg5304Gly
XM_011538776.1:c.15883C>G XP_011537078.1:p.Arg5295Gly
XM_005269162.4:c.15967C>G XP_005269219.1:p.Arg5323Gly
XM_006719614.4:c.15976C>G XP_006719677.1:p.Arg5326Gly
XM_006719616.3:c.15964C>G XP_006719679.1:p.Arg5322Gly
XM_011538770.2:c.15976C>G XP_011537072.1:p.Arg5326Gly
XM_011538771.2:c.15973C>G XP_011537073.1:p.Arg5325Gly
XM_011538772.2:c.15967C>G XP_011537074.1:p.Arg5323Gly
XM_011538773.2:c.15964C>G XP_011537075.1:p.Arg5322Gly
XM_011538774.2:c.15955C>G XP_011537076.1:p.Arg5319Gly
XM_011538776.2:c.15883C>G XP_011537078.1:p.Arg5295Gly
XR_001748874.1:n.16144C>G
NM_003482.4:c.15967C>G MANE Select NP_003473.3:p.Arg5323Gly