Canonical Allele Identifier: CA384681045

Gene: KMT2D

Linked Data

• ClinVar Variation Id: 463012
• ClinVar RCV Id: RCV000544912 ; RCV001261319
• dbSNP Id: rs1555185217
• MyVariant Identifiers: chr12:g.49418361C>T (hg19) ; chr12:g.49024578C>T (hg38)
• PubMed: PMID:26785492

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49024578C>T , CM000674.2:g.49024578C>T	GRCh38
NC_000012.11:g.49418361C>T , CM000674.1:g.49418361C>T	GRCh37
NC_000012.10:g.47704628C>T	NCBI36
NG_027827.1:g.35747G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681974.1:n.724G>A
ENST00000683543.2:c.16052G>A	ENSP00000506726.1:p.Arg5351His
ENST00000683863.1:n.1767G>A
ENST00000684428.1:c.587G>A	ENSP00000507433.1:p.Arg196Gln
ENST00000684755.1:n.587G>A
ENST00000685024.1:c.1206G>A
ENST00000685166.1:c.16061G>A	ENSP00000509386.1:p.Arg5354Gln
ENST00000688411.1:c.529G>A	ENSP00000510146.1:n.529G>A
ENST00000691932.1:c.131G>A	ENSP00000509037.1:p.Arg44His
ENST00000692637.1:c.16049G>A	ENSP00000509666.1:p.Arg5350Gln
ENST00000301067.12:c.16052G>A MANE Select	ENSP00000301067.7:p.Arg5351Gln
ENST00000301067.11:c.16052G>A	ENSP00000301067.7:p.Arg5351Gln
ENST00000526209.1:c.47G>A	ENSP00000435714.1:p.Arg16His
NM_003482.3:c.16052G>A	NP_003473.3:p.Arg5351Gln
XM_005269162.3:c.16052G>A	XP_005269219.1:p.Arg5351Gln
XM_006719614.2:c.16061G>A	XP_006719677.1:p.Arg5354Gln
XM_006719616.2:c.16049G>A	XP_006719679.1:p.Arg5350Gln
XM_011538770.1:c.16061G>A	XP_011537072.1:p.Arg5354His
XM_011538771.1:c.16058G>A	XP_011537073.1:p.Arg5353His
XM_011538772.1:c.16052G>A	XP_011537074.1:p.Arg5351His
XM_011538773.1:c.16049G>A	XP_011537075.1:p.Arg5350His
XM_011538774.1:c.16040G>A	XP_011537076.1:p.Arg5347His
XM_011538775.1:c.15995G>A	XP_011537077.1:p.Arg5332His
XM_011538776.1:c.15968G>A	XP_011537078.1:p.Arg5323His
XM_005269162.4:c.16052G>A	XP_005269219.1:p.Arg5351Gln
XM_006719614.4:c.16061G>A	XP_006719677.1:p.Arg5354Gln
XM_006719616.3:c.16049G>A	XP_006719679.1:p.Arg5350Gln
XM_011538770.2:c.16061G>A	XP_011537072.1:p.Arg5354His
XM_011538771.2:c.16058G>A	XP_011537073.1:p.Arg5353His
XM_011538772.2:c.16052G>A	XP_011537074.1:p.Arg5351His
XM_011538773.2:c.16049G>A	XP_011537075.1:p.Arg5350His
XM_011538774.2:c.16040G>A	XP_011537076.1:p.Arg5347His
XM_011538776.2:c.15968G>A	XP_011537078.1:p.Arg5323His
XR_001748874.1:n.16229G>A
NM_003482.4:c.16052G>A MANE Select	NP_003473.3:p.Arg5351Gln