Canonical Allele Identifier: CA236631510

Gene: KMT2D

Linked Data

• ClinVar Variation Id: 1000878
• ClinVar RCV Id: RCV001297074
• dbSNP Id: rs936142615
• COSMIC: COSM4042327 ; COSM4042328
• MyVariant Identifiers: chr12:g.49418643C>T (hg19) ; chr12:g.49024860C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49024860C>T , CM000674.2:g.49024860C>T	GRCh38
NC_000012.11:g.49418643C>T , CM000674.1:g.49418643C>T	GRCh37
NC_000012.10:g.47704910C>T	NCBI36
NG_027827.1:g.35465G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681974.1:n.543G>A
ENST00000683543.2:c.15871G>A	ENSP00000506726.1:p.Glu5291Lys
ENST00000683863.1:n.1586G>A
ENST00000684428.1:c.406G>A	ENSP00000507433.1:p.Glu136Lys
ENST00000684755.1:n.406G>A
ENST00000685024.1:c.996G>A
ENST00000685166.1:c.15880G>A	ENSP00000509386.1:p.Glu5294Lys
ENST00000688411.1:c.348G>A	ENSP00000510146.1:n.348G>A
ENST00000691463.1:c.1257G>A	ENSP00000510624.1:n.1257G>A
ENST00000692637.1:c.15868G>A	ENSP00000509666.1:p.Glu5290Lys
ENST00000301067.12:c.15871G>A MANE Select	ENSP00000301067.7:p.Glu5291Lys
ENST00000301067.11:c.15871G>A	ENSP00000301067.7:p.Glu5291Lys
NM_003482.3:c.15871G>A	NP_003473.3:p.Glu5291Lys
XM_005269162.3:c.15871G>A	XP_005269219.1:p.Glu5291Lys
XM_006719614.2:c.15880G>A	XP_006719677.1:p.Glu5294Lys
XM_006719616.2:c.15868G>A	XP_006719679.1:p.Glu5290Lys
XM_011538770.1:c.15880G>A	XP_011537072.1:p.Glu5294Lys
XM_011538771.1:c.15877G>A	XP_011537073.1:p.Glu5293Lys
XM_011538772.1:c.15871G>A	XP_011537074.1:p.Glu5291Lys
XM_011538773.1:c.15868G>A	XP_011537075.1:p.Glu5290Lys
XM_011538774.1:c.15859G>A	XP_011537076.1:p.Glu5287Lys
XM_011538775.1:c.15814G>A	XP_011537077.1:p.Glu5272Lys
XM_011538776.1:c.15787G>A	XP_011537078.1:p.Glu5263Lys
XR_944740.1:n.17059G>A
XM_005269162.4:c.15871G>A	XP_005269219.1:p.Glu5291Lys
XM_006719614.4:c.15880G>A	XP_006719677.1:p.Glu5294Lys
XM_006719616.3:c.15868G>A	XP_006719679.1:p.Glu5290Lys
XM_011538770.2:c.15880G>A	XP_011537072.1:p.Glu5294Lys
XM_011538771.2:c.15877G>A	XP_011537073.1:p.Glu5293Lys
XM_011538772.2:c.15871G>A	XP_011537074.1:p.Glu5291Lys
XM_011538773.2:c.15868G>A	XP_011537075.1:p.Glu5290Lys
XM_011538774.2:c.15859G>A	XP_011537076.1:p.Glu5287Lys
XM_011538776.2:c.15787G>A	XP_011537078.1:p.Glu5263Lys
XR_001748874.1:n.16048G>A
NM_003482.4:c.15871G>A MANE Select	NP_003473.3:p.Glu5291Lys