Canonical Allele Identifier: CA384677340

Gene: KMT2D

Linked Data

• dbSNP Id: rs2137706146
• COSMIC: COSM5669284 ; COSM5669285
• MyVariant Identifiers: chr12:g.49416377T>A (hg19) ; chr12:g.49022594T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022594T>A , CM000674.2:g.49022594T>A	GRCh38
NC_000012.11:g.49416377T>A , CM000674.1:g.49416377T>A	GRCh37
NC_000012.10:g.47702644T>A	NCBI36
NG_027827.1:g.37731A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.304A>T
ENST00000681974.1:n.1006A>T
ENST00000682693.1:n.1968A>T
ENST00000682886.1:n.504A>T
ENST00000683543.2:c.16382A>T	ENSP00000506726.1:p.Glu5461Val
ENST00000683988.1:c.305A>T	ENSP00000506939.1:p.Glu102Val
ENST00000684428.1:c.869A>T	ENSP00000507433.1:p.Glu290Val
ENST00000684755.1:n.917A>T
ENST00000685024.1:c.1488A>T
ENST00000685166.1:c.16343A>T	ENSP00000509386.1:p.Glu5448Val
ENST00000688411.1:c.811A>T	ENSP00000510146.1:n.811A>T
ENST00000691932.1:c.335A>T	ENSP00000509037.1:p.Glu112Val
ENST00000692637.1:c.16331A>T	ENSP00000509666.1:p.Glu5444Val
ENST00000301067.12:c.16334A>T MANE Select	ENSP00000301067.7:p.Glu5445Val
ENST00000301067.11:c.16334A>T	ENSP00000301067.7:p.Glu5445Val
ENST00000526209.1:c.377A>T	ENSP00000435714.1:p.Glu126Val
NM_003482.3:c.16334A>T	NP_003473.3:p.Glu5445Val
XM_005269162.3:c.16334A>T	XP_005269219.1:p.Glu5445Val
XM_006719614.2:c.16343A>T	XP_006719677.1:p.Glu5448Val
XM_006719616.2:c.16331A>T	XP_006719679.1:p.Glu5444Val
XM_011538770.1:c.16391A>T	XP_011537072.1:p.Glu5464Val
XM_011538771.1:c.16388A>T	XP_011537073.1:p.Glu5463Val
XM_011538772.1:c.16382A>T	XP_011537074.1:p.Glu5461Val
XM_011538773.1:c.16379A>T	XP_011537075.1:p.Glu5460Val
XM_011538774.1:c.16370A>T	XP_011537076.1:p.Glu5457Val
XM_011538775.1:c.16325A>T	XP_011537077.1:p.Glu5442Val
XM_011538776.1:c.16298A>T	XP_011537078.1:p.Glu5433Val
XM_005269162.4:c.16334A>T	XP_005269219.1:p.Glu5445Val
XM_006719614.4:c.16343A>T	XP_006719677.1:p.Glu5448Val
XM_006719616.3:c.16331A>T	XP_006719679.1:p.Glu5444Val
XM_011538770.2:c.16391A>T	XP_011537072.1:p.Glu5464Val
XM_011538771.2:c.16388A>T	XP_011537073.1:p.Glu5463Val
XM_011538772.2:c.16382A>T	XP_011537074.1:p.Glu5461Val
XM_011538773.2:c.16379A>T	XP_011537075.1:p.Glu5460Val
XM_011538774.2:c.16370A>T	XP_011537076.1:p.Glu5457Val
XM_011538776.2:c.16298A>T	XP_011537078.1:p.Glu5433Val
XR_001748874.1:n.16511A>T
NM_003482.4:c.16334A>T MANE Select	NP_003473.3:p.Glu5445Val