Canonical Allele Identifier: CA2034962983
Gene: KMT2D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49022067G= , CM000674.2:g.49022067G= GRCh38
NC_000012.11:g.49415850G= , CM000674.1:g.49415850G= GRCh37
NC_000012.10:g.47702117G= NCBI36
NG_027827.1:g.38258C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000526209.2:c.467C=
ENST00000681974.1:n.1169C=
ENST00000682693.1:n.2131C=
ENST00000682886.1:n.903C=
ENST00000683543.2:c.16545C= ENSP00000506726.1:p.Ser5515=
ENST00000683988.1:c.468C= ENSP00000506939.1:p.Ser156=
ENST00000684428.1:c.1090C= ENSP00000507433.1:n.1090C=
ENST00000685024.1:c.1651C=
ENST00000685166.1:c.16506C= ENSP00000509386.1:p.Ser5502=
ENST00000691932.1:c.498C= ENSP00000509037.1:p.Ser166=
ENST00000692637.1:c.16494C= ENSP00000509666.1:p.Ser5498=
ENST00000301067.12:c.16497C= MANE Select ENSP00000301067.7:p.Ser5499=
ENST00000301067.11:c.16497C= ENSP00000301067.7:p.Ser5499=
ENST00000526209.1:c.540C= ENSP00000435714.1:p.Ser180=
NM_003482.3:c.16497C= NP_003473.3:p.Ser5499=
XM_005269162.3:c.16497C= XP_005269219.1:p.Ser5499=
XM_006719614.2:c.16506C= XP_006719677.1:p.Ser5502=
XM_006719616.2:c.16494C= XP_006719679.1:p.Ser5498=
XM_011538770.1:c.16554C= XP_011537072.1:p.Ser5518=
XM_011538771.1:c.16551C= XP_011537073.1:p.Ser5517=
XM_011538772.1:c.16545C= XP_011537074.1:p.Ser5515=
XM_011538773.1:c.16542C= XP_011537075.1:p.Ser5514=
XM_011538774.1:c.16533C= XP_011537076.1:p.Ser5511=
XM_011538775.1:c.16488C= XP_011537077.1:p.Ser5496=
XM_011538776.1:c.16461C= XP_011537078.1:p.Ser5487=
XM_005269162.4:c.16497C= XP_005269219.1:p.Ser5499=
XM_006719614.4:c.16506C= XP_006719677.1:p.Ser5502=
XM_006719616.3:c.16494C= XP_006719679.1:p.Ser5498=
XM_011538770.2:c.16554C= XP_011537072.1:p.Ser5518=
XM_011538771.2:c.16551C= XP_011537073.1:p.Ser5517=
XM_011538772.2:c.16545C= XP_011537074.1:p.Ser5515=
XM_011538773.2:c.16542C= XP_011537075.1:p.Ser5514=
XM_011538774.2:c.16533C= XP_011537076.1:p.Ser5511=
XM_011538776.2:c.16461C= XP_011537078.1:p.Ser5487=
XR_001748874.1:n.16674C=
NM_003482.4:c.16497C= MANE Select NP_003473.3:p.Ser5499=