Canonical Allele Identifier: CA479521044

Gene: KMT2D

Linked Data

• dbSNP Id: rs1942383332
• MyVariant Identifiers: chr12:g.49416376C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022593C>T , CM000674.2:g.49022593C>T	GRCh38
NC_000012.11:g.49416376C>T , CM000674.1:g.49416376C>T	GRCh37
NC_000012.10:g.47702643C>T	NCBI36
NG_027827.1:g.37732G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.305G>A
ENST00000681974.1:n.1007G>A
ENST00000682693.1:n.1969G>A
ENST00000682886.1:n.505G>A
ENST00000683543.2:c.16383G>A	ENSP00000506726.1:p.Glu5461=
ENST00000683988.1:c.306G>A	ENSP00000506939.1:p.Glu102=
ENST00000684428.1:c.870G>A	ENSP00000507433.1:p.Glu290=
ENST00000684755.1:n.918G>A
ENST00000685024.1:c.1489G>A
ENST00000685166.1:c.16344G>A	ENSP00000509386.1:p.Glu5448=
ENST00000688411.1:c.812G>A	ENSP00000510146.1:n.812G>A
ENST00000691932.1:c.336G>A	ENSP00000509037.1:p.Glu112=
ENST00000692637.1:c.16332G>A	ENSP00000509666.1:p.Glu5444=
ENST00000301067.12:c.16335G>A MANE Select	ENSP00000301067.7:p.Glu5445=
ENST00000301067.11:c.16335G>A	ENSP00000301067.7:p.Glu5445=
ENST00000526209.1:c.378G>A	ENSP00000435714.1:p.Glu126=
NM_003482.3:c.16335G>A	NP_003473.3:p.Glu5445=
XM_005269162.3:c.16335G>A	XP_005269219.1:p.Glu5445=
XM_006719614.2:c.16344G>A	XP_006719677.1:p.Glu5448=
XM_006719616.2:c.16332G>A	XP_006719679.1:p.Glu5444=
XM_011538770.1:c.16392G>A	XP_011537072.1:p.Glu5464=
XM_011538771.1:c.16389G>A	XP_011537073.1:p.Glu5463=
XM_011538772.1:c.16383G>A	XP_011537074.1:p.Glu5461=
XM_011538773.1:c.16380G>A	XP_011537075.1:p.Glu5460=
XM_011538774.1:c.16371G>A	XP_011537076.1:p.Glu5457=
XM_011538775.1:c.16326G>A	XP_011537077.1:p.Glu5442=
XM_011538776.1:c.16299G>A	XP_011537078.1:p.Glu5433=
XM_005269162.4:c.16335G>A	XP_005269219.1:p.Glu5445=
XM_006719614.4:c.16344G>A	XP_006719677.1:p.Glu5448=
XM_006719616.3:c.16332G>A	XP_006719679.1:p.Glu5444=
XM_011538770.2:c.16392G>A	XP_011537072.1:p.Glu5464=
XM_011538771.2:c.16389G>A	XP_011537073.1:p.Glu5463=
XM_011538772.2:c.16383G>A	XP_011537074.1:p.Glu5461=
XM_011538773.2:c.16380G>A	XP_011537075.1:p.Glu5460=
XM_011538774.2:c.16371G>A	XP_011537076.1:p.Glu5457=
XM_011538776.2:c.16299G>A	XP_011537078.1:p.Glu5433=
XR_001748874.1:n.16512G>A
NM_003482.4:c.16335G>A MANE Select	NP_003473.3:p.Glu5445=