Canonical Allele Identifier: CA384677338

Gene: KMT2D

Linked Data

• dbSNP Id: rs1942383332
• MyVariant Identifiers: chr12:g.49416376C>G (hg19) ; chr12:g.49022593C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.305G>C
ENST00000681974.1:n.1007G>C
ENST00000682693.1:n.1969G>C
ENST00000682886.1:n.505G>C
ENST00000683543.2:c.16383G>C	ENSP00000506726.1:p.Glu5461Asp
ENST00000683988.1:c.306G>C	ENSP00000506939.1:p.Glu102Asp
ENST00000684428.1:c.870G>C	ENSP00000507433.1:p.Glu290Asp
ENST00000684755.1:n.918G>C
ENST00000685024.1:c.1489G>C
ENST00000685166.1:c.16344G>C	ENSP00000509386.1:p.Glu5448Asp
ENST00000688411.1:c.812G>C	ENSP00000510146.1:n.812G>C
ENST00000691932.1:c.336G>C	ENSP00000509037.1:p.Glu112Asp
ENST00000692637.1:c.16332G>C	ENSP00000509666.1:p.Glu5444Asp
ENST00000301067.12:c.16335G>C MANE Select	ENSP00000301067.7:p.Glu5445Asp
ENST00000301067.11:c.16335G>C	ENSP00000301067.7:p.Glu5445Asp
ENST00000526209.1:c.378G>C	ENSP00000435714.1:p.Glu126Asp
NM_003482.3:c.16335G>C	NP_003473.3:p.Glu5445Asp
XM_005269162.3:c.16335G>C	XP_005269219.1:p.Glu5445Asp
XM_006719614.2:c.16344G>C	XP_006719677.1:p.Glu5448Asp
XM_006719616.2:c.16332G>C	XP_006719679.1:p.Glu5444Asp
XM_011538770.1:c.16392G>C	XP_011537072.1:p.Glu5464Asp
XM_011538771.1:c.16389G>C	XP_011537073.1:p.Glu5463Asp
XM_011538772.1:c.16383G>C	XP_011537074.1:p.Glu5461Asp
XM_011538773.1:c.16380G>C	XP_011537075.1:p.Glu5460Asp
XM_011538774.1:c.16371G>C	XP_011537076.1:p.Glu5457Asp
XM_011538775.1:c.16326G>C	XP_011537077.1:p.Glu5442Asp
XM_011538776.1:c.16299G>C	XP_011537078.1:p.Glu5433Asp
XM_005269162.4:c.16335G>C	XP_005269219.1:p.Glu5445Asp
XM_006719614.4:c.16344G>C	XP_006719677.1:p.Glu5448Asp
XM_006719616.3:c.16332G>C	XP_006719679.1:p.Glu5444Asp
XM_011538770.2:c.16392G>C	XP_011537072.1:p.Glu5464Asp
XM_011538771.2:c.16389G>C	XP_011537073.1:p.Glu5463Asp
XM_011538772.2:c.16383G>C	XP_011537074.1:p.Glu5461Asp
XM_011538773.2:c.16380G>C	XP_011537075.1:p.Glu5460Asp
XM_011538774.2:c.16371G>C	XP_011537076.1:p.Glu5457Asp
XM_011538776.2:c.16299G>C	XP_011537078.1:p.Glu5433Asp
XR_001748874.1:n.16512G>C
NM_003482.4:c.16335G>C MANE Select	NP_003473.3:p.Glu5445Asp