Canonical Allele Identifier: CA384682528

Gene: KMT2D

Linked Data

• dbSNP Id: rs1490295913
• gnomAD v2: 12-49418610-G-T
• gnomAD v4: 12-49024827-G-T
• MyVariant Identifiers: chr12:g.49418610G>T (hg19) ; chr12:g.49024827G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49024827G>T , CM000674.2:g.49024827G>T	GRCh38
NC_000012.11:g.49418610G>T , CM000674.1:g.49418610G>T	GRCh37
NC_000012.10:g.47704877G>T	NCBI36
NG_027827.1:g.35498C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681974.1:n.576C>A
ENST00000683543.2:c.15904C>A	ENSP00000506726.1:p.Leu5302Ile
ENST00000683863.1:n.1619C>A
ENST00000684428.1:c.439C>A	ENSP00000507433.1:p.Leu147Ile
ENST00000684755.1:n.439C>A
ENST00000685024.1:c.1029C>A
ENST00000685166.1:c.15913C>A	ENSP00000509386.1:p.Leu5305Ile
ENST00000688411.1:c.381C>A	ENSP00000510146.1:n.381C>A
ENST00000691463.1:c.1290C>A	ENSP00000510624.1:n.1290C>A
ENST00000692637.1:c.15901C>A	ENSP00000509666.1:p.Leu5301Ile
ENST00000301067.12:c.15904C>A MANE Select	ENSP00000301067.7:p.Leu5302Ile
ENST00000301067.11:c.15904C>A	ENSP00000301067.7:p.Leu5302Ile
NM_003482.3:c.15904C>A	NP_003473.3:p.Leu5302Ile
XM_005269162.3:c.15904C>A	XP_005269219.1:p.Leu5302Ile
XM_006719614.2:c.15913C>A	XP_006719677.1:p.Leu5305Ile
XM_006719616.2:c.15901C>A	XP_006719679.1:p.Leu5301Ile
XM_011538770.1:c.15913C>A	XP_011537072.1:p.Leu5305Ile
XM_011538771.1:c.15910C>A	XP_011537073.1:p.Leu5304Ile
XM_011538772.1:c.15904C>A	XP_011537074.1:p.Leu5302Ile
XM_011538773.1:c.15901C>A	XP_011537075.1:p.Leu5301Ile
XM_011538774.1:c.15892C>A	XP_011537076.1:p.Leu5298Ile
XM_011538775.1:c.15847C>A	XP_011537077.1:p.Leu5283Ile
XM_011538776.1:c.15820C>A	XP_011537078.1:p.Leu5274Ile
XR_944740.1:n.17092C>A
XM_005269162.4:c.15904C>A	XP_005269219.1:p.Leu5302Ile
XM_006719614.4:c.15913C>A	XP_006719677.1:p.Leu5305Ile
XM_006719616.3:c.15901C>A	XP_006719679.1:p.Leu5301Ile
XM_011538770.2:c.15913C>A	XP_011537072.1:p.Leu5305Ile
XM_011538771.2:c.15910C>A	XP_011537073.1:p.Leu5304Ile
XM_011538772.2:c.15904C>A	XP_011537074.1:p.Leu5302Ile
XM_011538773.2:c.15901C>A	XP_011537075.1:p.Leu5301Ile
XM_011538774.2:c.15892C>A	XP_011537076.1:p.Leu5298Ile
XM_011538776.2:c.15820C>A	XP_011537078.1:p.Leu5274Ile
XR_001748874.1:n.16081C>A
NM_003482.4:c.15904C>A MANE Select	NP_003473.3:p.Leu5302Ile