Canonical Allele Identifier: CA384682253

Gene: KMT2D

Linked Data

• MyVariant Identifiers: chr12:g.49418490A>C (hg19) ; chr12:g.49024707A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49024707A>C , CM000674.2:g.49024707A>C	GRCh38
NC_000012.11:g.49418490A>C , CM000674.1:g.49418490A>C	GRCh37
NC_000012.10:g.47704757A>C	NCBI36
NG_027827.1:g.35618T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681974.1:n.595T>G
ENST00000683543.2:c.15923T>G	ENSP00000506726.1:p.Leu5308Arg
ENST00000683863.1:n.1638T>G
ENST00000684428.1:c.458T>G	ENSP00000507433.1:p.Leu153Arg
ENST00000684755.1:n.458T>G
ENST00000685024.1:c.1077T>G
ENST00000685166.1:c.15932T>G	ENSP00000509386.1:p.Leu5311Arg
ENST00000688411.1:c.400T>G	ENSP00000510146.1:n.400T>G
ENST00000691932.1:c.2T>G	ENSP00000509037.1:p.Leu1Arg
ENST00000692637.1:c.15920T>G	ENSP00000509666.1:p.Leu5307Arg
ENST00000301067.12:c.15923T>G MANE Select	ENSP00000301067.7:p.Leu5308Arg
ENST00000301067.11:c.15923T>G	ENSP00000301067.7:p.Leu5308Arg
NM_003482.3:c.15923T>G	NP_003473.3:p.Leu5308Arg
XM_005269162.3:c.15923T>G	XP_005269219.1:p.Leu5308Arg
XM_006719614.2:c.15932T>G	XP_006719677.1:p.Leu5311Arg
XM_006719616.2:c.15920T>G	XP_006719679.1:p.Leu5307Arg
XM_011538770.1:c.15932T>G	XP_011537072.1:p.Leu5311Arg
XM_011538771.1:c.15929T>G	XP_011537073.1:p.Leu5310Arg
XM_011538772.1:c.15923T>G	XP_011537074.1:p.Leu5308Arg
XM_011538773.1:c.15920T>G	XP_011537075.1:p.Leu5307Arg
XM_011538774.1:c.15911T>G	XP_011537076.1:p.Leu5304Arg
XM_011538775.1:c.15866T>G	XP_011537077.1:p.Leu5289Arg
XM_011538776.1:c.15839T>G	XP_011537078.1:p.Leu5280Arg
XR_944740.1:n.17111T>G
XM_005269162.4:c.15923T>G	XP_005269219.1:p.Leu5308Arg
XM_006719614.4:c.15932T>G	XP_006719677.1:p.Leu5311Arg
XM_006719616.3:c.15920T>G	XP_006719679.1:p.Leu5307Arg
XM_011538770.2:c.15932T>G	XP_011537072.1:p.Leu5311Arg
XM_011538771.2:c.15929T>G	XP_011537073.1:p.Leu5310Arg
XM_011538772.2:c.15923T>G	XP_011537074.1:p.Leu5308Arg
XM_011538773.2:c.15920T>G	XP_011537075.1:p.Leu5307Arg
XM_011538774.2:c.15911T>G	XP_011537076.1:p.Leu5304Arg
XM_011538776.2:c.15839T>G	XP_011537078.1:p.Leu5280Arg
XR_001748874.1:n.16100T>G
NM_003482.4:c.15923T>G MANE Select	NP_003473.3:p.Leu5308Arg