Canonical Allele Identifier: CA384677795

Gene: KMT2D

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022655C>T , CM000674.2:g.49022655C>T	GRCh38
NC_000012.11:g.49416438C>T , CM000674.1:g.49416438C>T	GRCh37
NC_000012.10:g.47702705C>T	NCBI36
NG_027827.1:g.37670G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_003482.4:c.16273G>A MANE Select	NP_003473.3:p.Glu5425Lys
ENST00000301067.12:c.16273G>A MANE Select	ENSP00000301067.7:p.Glu5425Lys
NM_003482.3:c.16273G>A	NP_003473.3:p.Glu5425Lys
ENST00000301067.11:c.16273G>A	ENSP00000301067.7:p.Glu5425Lys
ENST00000526209.1:c.316G>A	ENSP00000435714.1:p.Glu106Lys
ENST00000526209.2:c.243G>A
ENST00000681974.1:n.945G>A
ENST00000682693.1:n.1907G>A
ENST00000682886.1:n.443G>A
ENST00000683543.2:c.16321G>A	ENSP00000506726.1:p.Glu5441Lys
ENST00000683988.1:c.244G>A	ENSP00000506939.1:p.Glu82Lys
ENST00000684428.1:c.808G>A	ENSP00000507433.1:p.Glu270Lys
ENST00000684755.1:n.856G>A
ENST00000685024.1:c.1427G>A
ENST00000685166.1:c.16282G>A	ENSP00000509386.1:p.Glu5428Lys
ENST00000688411.1:c.750G>A	ENSP00000510146.1:n.750G>A
ENST00000691932.1:c.274G>A	ENSP00000509037.1:p.Glu92Lys
ENST00000692637.1:c.16270G>A	ENSP00000509666.1:p.Glu5424Lys
XM_005269162.3:c.16273G>A	XP_005269219.1:p.Glu5425Lys
XM_005269162.4:c.16273G>A	XP_005269219.1:p.Glu5425Lys
XM_006719614.2:c.16282G>A	XP_006719677.1:p.Glu5428Lys
XM_006719614.4:c.16282G>A	XP_006719677.1:p.Glu5428Lys
XM_006719616.2:c.16270G>A	XP_006719679.1:p.Glu5424Lys
XM_006719616.3:c.16270G>A	XP_006719679.1:p.Glu5424Lys
XM_011538770.1:c.16330G>A	XP_011537072.1:p.Glu5444Lys
XM_011538770.2:c.16330G>A	XP_011537072.1:p.Glu5444Lys
XM_011538771.1:c.16327G>A	XP_011537073.1:p.Glu5443Lys
XM_011538771.2:c.16327G>A	XP_011537073.1:p.Glu5443Lys
XM_011538772.1:c.16321G>A	XP_011537074.1:p.Glu5441Lys
XM_011538772.2:c.16321G>A	XP_011537074.1:p.Glu5441Lys
XM_011538773.1:c.16318G>A	XP_011537075.1:p.Glu5440Lys
XM_011538773.2:c.16318G>A	XP_011537075.1:p.Glu5440Lys
XM_011538774.1:c.16309G>A	XP_011537076.1:p.Glu5437Lys
XM_011538774.2:c.16309G>A	XP_011537076.1:p.Glu5437Lys
XM_011538775.1:c.16264G>A	XP_011537077.1:p.Glu5422Lys
XM_011538776.1:c.16237G>A	XP_011537078.1:p.Glu5413Lys
XM_011538776.2:c.16237G>A	XP_011537078.1:p.Glu5413Lys
XR_001748874.1:n.16450G>A