Canonical Allele Identifier: CA384682130

Gene: KMT2D

Linked Data

• MyVariant Identifiers: chr12:g.49418478T>A (hg19) ; chr12:g.49024695T>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681974.1:n.607A>T
ENST00000683543.2:c.15935A>T	ENSP00000506726.1:p.Glu5312Val
ENST00000683863.1:n.1650A>T
ENST00000684428.1:c.470A>T	ENSP00000507433.1:p.Glu157Val
ENST00000684755.1:n.470A>T
ENST00000685024.1:c.1089A>T
ENST00000685166.1:c.15944A>T	ENSP00000509386.1:p.Glu5315Val
ENST00000688411.1:c.412A>T	ENSP00000510146.1:n.412A>T
ENST00000691932.1:c.14A>T	ENSP00000509037.1:p.Glu5Val
ENST00000692637.1:c.15932A>T	ENSP00000509666.1:p.Glu5311Val
ENST00000301067.12:c.15935A>T MANE Select	ENSP00000301067.7:p.Glu5312Val
ENST00000301067.11:c.15935A>T	ENSP00000301067.7:p.Glu5312Val
NM_003482.3:c.15935A>T	NP_003473.3:p.Glu5312Val
XM_005269162.3:c.15935A>T	XP_005269219.1:p.Glu5312Val
XM_006719614.2:c.15944A>T	XP_006719677.1:p.Glu5315Val
XM_006719616.2:c.15932A>T	XP_006719679.1:p.Glu5311Val
XM_011538770.1:c.15944A>T	XP_011537072.1:p.Glu5315Val
XM_011538771.1:c.15941A>T	XP_011537073.1:p.Glu5314Val
XM_011538772.1:c.15935A>T	XP_011537074.1:p.Glu5312Val
XM_011538773.1:c.15932A>T	XP_011537075.1:p.Glu5311Val
XM_011538774.1:c.15923A>T	XP_011537076.1:p.Glu5308Val
XM_011538775.1:c.15878A>T	XP_011537077.1:p.Glu5293Val
XM_011538776.1:c.15851A>T	XP_011537078.1:p.Glu5284Val
XR_944740.1:n.17123A>T
XM_005269162.4:c.15935A>T	XP_005269219.1:p.Glu5312Val
XM_006719614.4:c.15944A>T	XP_006719677.1:p.Glu5315Val
XM_006719616.3:c.15932A>T	XP_006719679.1:p.Glu5311Val
XM_011538770.2:c.15944A>T	XP_011537072.1:p.Glu5315Val
XM_011538771.2:c.15941A>T	XP_011537073.1:p.Glu5314Val
XM_011538772.2:c.15935A>T	XP_011537074.1:p.Glu5312Val
XM_011538773.2:c.15932A>T	XP_011537075.1:p.Glu5311Val
XM_011538774.2:c.15923A>T	XP_011537076.1:p.Glu5308Val
XM_011538776.2:c.15851A>T	XP_011537078.1:p.Glu5284Val
XR_001748874.1:n.16112A>T
NM_003482.4:c.15935A>T MANE Select	NP_003473.3:p.Glu5312Val