Canonical Allele Identifier: CA384681346
Gene: KMT2D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49024620C>A , CM000674.2:g.49024620C>A GRCh38
NC_000012.11:g.49418403C>A , CM000674.1:g.49418403C>A GRCh37
NC_000012.10:g.47704670C>A NCBI36
NG_027827.1:g.35705G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000681974.1:n.682G>T
ENST00000683543.2:c.16010G>T ENSP00000506726.1:p.Gly5337Val
ENST00000683863.1:n.1725G>T
ENST00000684428.1:c.545G>T ENSP00000507433.1:p.Gly182Val
ENST00000684755.1:n.545G>T
ENST00000685024.1:c.1164G>T
ENST00000685166.1:c.16019G>T ENSP00000509386.1:p.Gly5340Val
ENST00000688411.1:c.487G>T ENSP00000510146.1:n.487G>T
ENST00000691932.1:c.89G>T ENSP00000509037.1:p.Gly30Val
ENST00000692637.1:c.16007G>T ENSP00000509666.1:p.Gly5336Val
ENST00000301067.12:c.16010G>T MANE Select ENSP00000301067.7:p.Gly5337Val
ENST00000301067.11:c.16010G>T ENSP00000301067.7:p.Gly5337Val
ENST00000526209.1:c.5G>T ENSP00000435714.1:p.Gly2Val
NM_003482.3:c.16010G>T NP_003473.3:p.Gly5337Val
XM_005269162.3:c.16010G>T XP_005269219.1:p.Gly5337Val
XM_006719614.2:c.16019G>T XP_006719677.1:p.Gly5340Val
XM_006719616.2:c.16007G>T XP_006719679.1:p.Gly5336Val
XM_011538770.1:c.16019G>T XP_011537072.1:p.Gly5340Val
XM_011538771.1:c.16016G>T XP_011537073.1:p.Gly5339Val
XM_011538772.1:c.16010G>T XP_011537074.1:p.Gly5337Val
XM_011538773.1:c.16007G>T XP_011537075.1:p.Gly5336Val
XM_011538774.1:c.15998G>T XP_011537076.1:p.Gly5333Val
XM_011538775.1:c.15953G>T XP_011537077.1:p.Gly5318Val
XM_011538776.1:c.15926G>T XP_011537078.1:p.Gly5309Val
XM_005269162.4:c.16010G>T XP_005269219.1:p.Gly5337Val
XM_006719614.4:c.16019G>T XP_006719677.1:p.Gly5340Val
XM_006719616.3:c.16007G>T XP_006719679.1:p.Gly5336Val
XM_011538770.2:c.16019G>T XP_011537072.1:p.Gly5340Val
XM_011538771.2:c.16016G>T XP_011537073.1:p.Gly5339Val
XM_011538772.2:c.16010G>T XP_011537074.1:p.Gly5337Val
XM_011538773.2:c.16007G>T XP_011537075.1:p.Gly5336Val
XM_011538774.2:c.15998G>T XP_011537076.1:p.Gly5333Val
XM_011538776.2:c.15926G>T XP_011537078.1:p.Gly5309Val
XR_001748874.1:n.16187G>T
NM_003482.4:c.16010G>T MANE Select NP_003473.3:p.Gly5337Val