Canonical Allele Identifier: CA384682817

Gene: KMT2D

Linked Data

• ClinVar Variation Id: 503606
• ClinVar RCV Id: RCV000599612
• dbSNP Id: rs1365163460
• MyVariant Identifiers: chr12:g.49418638C>G (hg19) ; chr12:g.49024855C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49024855C>G , CM000674.2:g.49024855C>G	GRCh38
NC_000012.11:g.49418638C>G , CM000674.1:g.49418638C>G	GRCh37
NC_000012.10:g.47704905C>G	NCBI36
NG_027827.1:g.35470G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681974.1:n.548G>C
ENST00000683543.2:c.15876G>C	ENSP00000506726.1:p.Glu5292Asp
ENST00000683863.1:n.1591G>C
ENST00000684428.1:c.411G>C	ENSP00000507433.1:p.Glu137Asp
ENST00000684755.1:n.411G>C
ENST00000685024.1:c.1001G>C
ENST00000685166.1:c.15885G>C	ENSP00000509386.1:p.Glu5295Asp
ENST00000688411.1:c.353G>C	ENSP00000510146.1:n.353G>C
ENST00000691463.1:c.1262G>C	ENSP00000510624.1:n.1262G>C
ENST00000692637.1:c.15873G>C	ENSP00000509666.1:p.Glu5291Asp
ENST00000301067.12:c.15876G>C MANE Select	ENSP00000301067.7:p.Glu5292Asp
ENST00000301067.11:c.15876G>C	ENSP00000301067.7:p.Glu5292Asp
NM_003482.3:c.15876G>C	NP_003473.3:p.Glu5292Asp
XM_005269162.3:c.15876G>C	XP_005269219.1:p.Glu5292Asp
XM_006719614.2:c.15885G>C	XP_006719677.1:p.Glu5295Asp
XM_006719616.2:c.15873G>C	XP_006719679.1:p.Glu5291Asp
XM_011538770.1:c.15885G>C	XP_011537072.1:p.Glu5295Asp
XM_011538771.1:c.15882G>C	XP_011537073.1:p.Glu5294Asp
XM_011538772.1:c.15876G>C	XP_011537074.1:p.Glu5292Asp
XM_011538773.1:c.15873G>C	XP_011537075.1:p.Glu5291Asp
XM_011538774.1:c.15864G>C	XP_011537076.1:p.Glu5288Asp
XM_011538775.1:c.15819G>C	XP_011537077.1:p.Glu5273Asp
XM_011538776.1:c.15792G>C	XP_011537078.1:p.Glu5264Asp
XR_944740.1:n.17064G>C
XM_005269162.4:c.15876G>C	XP_005269219.1:p.Glu5292Asp
XM_006719614.4:c.15885G>C	XP_006719677.1:p.Glu5295Asp
XM_006719616.3:c.15873G>C	XP_006719679.1:p.Glu5291Asp
XM_011538770.2:c.15885G>C	XP_011537072.1:p.Glu5295Asp
XM_011538771.2:c.15882G>C	XP_011537073.1:p.Glu5294Asp
XM_011538772.2:c.15876G>C	XP_011537074.1:p.Glu5292Asp
XM_011538773.2:c.15873G>C	XP_011537075.1:p.Glu5291Asp
XM_011538774.2:c.15864G>C	XP_011537076.1:p.Glu5288Asp
XM_011538776.2:c.15792G>C	XP_011537078.1:p.Glu5264Asp
XR_001748874.1:n.16053G>C
NM_003482.4:c.15876G>C MANE Select	NP_003473.3:p.Glu5292Asp