Canonical Allele Identifier: CA384681332

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49024617C>T , CM000674.2:g.49024617C>T	GRCh38
NC_000012.11:g.49418400C>T , CM000674.1:g.49418400C>T	GRCh37
NC_000012.10:g.47704667C>T	NCBI36
NG_027827.1:g.35708G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681974.1:n.685G>A
ENST00000683543.2:c.16013G>A	ENSP00000506726.1:p.Cys5338Tyr
ENST00000683863.1:n.1728G>A
ENST00000684428.1:c.548G>A	ENSP00000507433.1:p.Cys183Tyr
ENST00000684755.1:n.548G>A
ENST00000685024.1:c.1167G>A
ENST00000685166.1:c.16022G>A	ENSP00000509386.1:p.Cys5341Tyr
ENST00000688411.1:c.490G>A	ENSP00000510146.1:n.490G>A
ENST00000691932.1:c.92G>A	ENSP00000509037.1:p.Cys31Tyr
ENST00000692637.1:c.16010G>A	ENSP00000509666.1:p.Cys5337Tyr
ENST00000301067.12:c.16013G>A MANE Select	ENSP00000301067.7:p.Cys5338Tyr
ENST00000301067.11:c.16013G>A	ENSP00000301067.7:p.Cys5338Tyr
ENST00000526209.1:c.8G>A	ENSP00000435714.1:p.Cys3Tyr
NM_003482.3:c.16013G>A	NP_003473.3:p.Cys5338Tyr
XM_005269162.3:c.16013G>A	XP_005269219.1:p.Cys5338Tyr
XM_006719614.2:c.16022G>A	XP_006719677.1:p.Cys5341Tyr
XM_006719616.2:c.16010G>A	XP_006719679.1:p.Cys5337Tyr
XM_011538770.1:c.16022G>A	XP_011537072.1:p.Cys5341Tyr
XM_011538771.1:c.16019G>A	XP_011537073.1:p.Cys5340Tyr
XM_011538772.1:c.16013G>A	XP_011537074.1:p.Cys5338Tyr
XM_011538773.1:c.16010G>A	XP_011537075.1:p.Cys5337Tyr
XM_011538774.1:c.16001G>A	XP_011537076.1:p.Cys5334Tyr
XM_011538775.1:c.15956G>A	XP_011537077.1:p.Cys5319Tyr
XM_011538776.1:c.15929G>A	XP_011537078.1:p.Cys5310Tyr
XM_005269162.4:c.16013G>A	XP_005269219.1:p.Cys5338Tyr
XM_006719614.4:c.16022G>A	XP_006719677.1:p.Cys5341Tyr
XM_006719616.3:c.16010G>A	XP_006719679.1:p.Cys5337Tyr
XM_011538770.2:c.16022G>A	XP_011537072.1:p.Cys5341Tyr
XM_011538771.2:c.16019G>A	XP_011537073.1:p.Cys5340Tyr
XM_011538772.2:c.16013G>A	XP_011537074.1:p.Cys5338Tyr
XM_011538773.2:c.16010G>A	XP_011537075.1:p.Cys5337Tyr
XM_011538774.2:c.16001G>A	XP_011537076.1:p.Cys5334Tyr
XM_011538776.2:c.15929G>A	XP_011537078.1:p.Cys5310Tyr
XR_001748874.1:n.16190G>A
NM_003482.4:c.16013G>A MANE Select	NP_003473.3:p.Cys5338Tyr