Canonical Allele Identifier: CA384682131

Gene: KMT2D

Linked Data

• dbSNP Id: rs2137710748
• MyVariant Identifiers: chr12:g.49418478T>C (hg19) ; chr12:g.49024695T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49024695T>C , CM000674.2:g.49024695T>C	GRCh38
NC_000012.11:g.49418478T>C , CM000674.1:g.49418478T>C	GRCh37
NC_000012.10:g.47704745T>C	NCBI36
NG_027827.1:g.35630A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681974.1:n.607A>G
ENST00000683543.2:c.15935A>G	ENSP00000506726.1:p.Glu5312Gly
ENST00000683863.1:n.1650A>G
ENST00000684428.1:c.470A>G	ENSP00000507433.1:p.Glu157Gly
ENST00000684755.1:n.470A>G
ENST00000685024.1:c.1089A>G
ENST00000685166.1:c.15944A>G	ENSP00000509386.1:p.Glu5315Gly
ENST00000688411.1:c.412A>G	ENSP00000510146.1:n.412A>G
ENST00000691932.1:c.14A>G	ENSP00000509037.1:p.Glu5Gly
ENST00000692637.1:c.15932A>G	ENSP00000509666.1:p.Glu5311Gly
ENST00000301067.12:c.15935A>G MANE Select	ENSP00000301067.7:p.Glu5312Gly
ENST00000301067.11:c.15935A>G	ENSP00000301067.7:p.Glu5312Gly
NM_003482.3:c.15935A>G	NP_003473.3:p.Glu5312Gly
XM_005269162.3:c.15935A>G	XP_005269219.1:p.Glu5312Gly
XM_006719614.2:c.15944A>G	XP_006719677.1:p.Glu5315Gly
XM_006719616.2:c.15932A>G	XP_006719679.1:p.Glu5311Gly
XM_011538770.1:c.15944A>G	XP_011537072.1:p.Glu5315Gly
XM_011538771.1:c.15941A>G	XP_011537073.1:p.Glu5314Gly
XM_011538772.1:c.15935A>G	XP_011537074.1:p.Glu5312Gly
XM_011538773.1:c.15932A>G	XP_011537075.1:p.Glu5311Gly
XM_011538774.1:c.15923A>G	XP_011537076.1:p.Glu5308Gly
XM_011538775.1:c.15878A>G	XP_011537077.1:p.Glu5293Gly
XM_011538776.1:c.15851A>G	XP_011537078.1:p.Glu5284Gly
XR_944740.1:n.17123A>G
XM_005269162.4:c.15935A>G	XP_005269219.1:p.Glu5312Gly
XM_006719614.4:c.15944A>G	XP_006719677.1:p.Glu5315Gly
XM_006719616.3:c.15932A>G	XP_006719679.1:p.Glu5311Gly
XM_011538770.2:c.15944A>G	XP_011537072.1:p.Glu5315Gly
XM_011538771.2:c.15941A>G	XP_011537073.1:p.Glu5314Gly
XM_011538772.2:c.15935A>G	XP_011537074.1:p.Glu5312Gly
XM_011538773.2:c.15932A>G	XP_011537075.1:p.Glu5311Gly
XM_011538774.2:c.15923A>G	XP_011537076.1:p.Glu5308Gly
XM_011538776.2:c.15851A>G	XP_011537078.1:p.Glu5284Gly
XR_001748874.1:n.16112A>G
NM_003482.4:c.15935A>G MANE Select	NP_003473.3:p.Glu5312Gly