Canonical Allele Identifier: CA384681267

Gene: KMT2D

Linked Data

• MyVariant Identifiers: chr12:g.49418389C>T (hg19) ; chr12:g.49024606C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49024606C>T , CM000674.2:g.49024606C>T	GRCh38
NC_000012.11:g.49418389C>T , CM000674.1:g.49418389C>T	GRCh37
NC_000012.10:g.47704656C>T	NCBI36
NG_027827.1:g.35719G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681974.1:n.696G>A
ENST00000683543.2:c.16024G>A	ENSP00000506726.1:p.Glu5342Lys
ENST00000683863.1:n.1739G>A
ENST00000684428.1:c.559G>A	ENSP00000507433.1:p.Glu187Lys
ENST00000684755.1:n.559G>A
ENST00000685024.1:c.1178G>A
ENST00000685166.1:c.16033G>A	ENSP00000509386.1:p.Glu5345Lys
ENST00000688411.1:c.501G>A	ENSP00000510146.1:n.501G>A
ENST00000691932.1:c.103G>A	ENSP00000509037.1:p.Glu35Lys
ENST00000692637.1:c.16021G>A	ENSP00000509666.1:p.Glu5341Lys
ENST00000301067.12:c.16024G>A MANE Select	ENSP00000301067.7:p.Glu5342Lys
ENST00000301067.11:c.16024G>A	ENSP00000301067.7:p.Glu5342Lys
ENST00000526209.1:c.19G>A	ENSP00000435714.1:p.Glu7Lys
NM_003482.3:c.16024G>A	NP_003473.3:p.Glu5342Lys
XM_005269162.3:c.16024G>A	XP_005269219.1:p.Glu5342Lys
XM_006719614.2:c.16033G>A	XP_006719677.1:p.Glu5345Lys
XM_006719616.2:c.16021G>A	XP_006719679.1:p.Glu5341Lys
XM_011538770.1:c.16033G>A	XP_011537072.1:p.Glu5345Lys
XM_011538771.1:c.16030G>A	XP_011537073.1:p.Glu5344Lys
XM_011538772.1:c.16024G>A	XP_011537074.1:p.Glu5342Lys
XM_011538773.1:c.16021G>A	XP_011537075.1:p.Glu5341Lys
XM_011538774.1:c.16012G>A	XP_011537076.1:p.Glu5338Lys
XM_011538775.1:c.15967G>A	XP_011537077.1:p.Glu5323Lys
XM_011538776.1:c.15940G>A	XP_011537078.1:p.Glu5314Lys
XM_005269162.4:c.16024G>A	XP_005269219.1:p.Glu5342Lys
XM_006719614.4:c.16033G>A	XP_006719677.1:p.Glu5345Lys
XM_006719616.3:c.16021G>A	XP_006719679.1:p.Glu5341Lys
XM_011538770.2:c.16033G>A	XP_011537072.1:p.Glu5345Lys
XM_011538771.2:c.16030G>A	XP_011537073.1:p.Glu5344Lys
XM_011538772.2:c.16024G>A	XP_011537074.1:p.Glu5342Lys
XM_011538773.2:c.16021G>A	XP_011537075.1:p.Glu5341Lys
XM_011538774.2:c.16012G>A	XP_011537076.1:p.Glu5338Lys
XM_011538776.2:c.15940G>A	XP_011537078.1:p.Glu5314Lys
XR_001748874.1:n.16201G>A
NM_003482.4:c.16024G>A MANE Select	NP_003473.3:p.Glu5342Lys