Canonical Allele Identifier: CA222044

Gene: KMT2D

Linked Data

• ClinVar Variation Id: 94191
• ClinVar RCV Id: RCV000080154 ; RCV000659832
• dbSNP Id: rs398123734
• COSMIC: COSM88086 ; COSM3461507
• MyVariant Identifiers: chr12:g.49416416C>T (hg19) ; chr12:g.49022633C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022633C>T , CM000674.2:g.49022633C>T	GRCh38
NC_000012.11:g.49416416C>T , CM000674.1:g.49416416C>T	GRCh37
NC_000012.10:g.47702683C>T	NCBI36
NG_027827.1:g.37692G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000526209.2:c.265G>A
ENST00000681974.1:n.967G>A
ENST00000682693.1:n.1929G>A
ENST00000682886.1:n.465G>A
ENST00000683543.2:c.16343G>A	ENSP00000506726.1:p.Arg5448Gln
ENST00000683988.1:c.266G>A	ENSP00000506939.1:p.Arg89Gln
ENST00000684428.1:c.830G>A	ENSP00000507433.1:p.Arg277Gln
ENST00000684755.1:n.878G>A
ENST00000685024.1:c.1449G>A
ENST00000685166.1:c.16304G>A	ENSP00000509386.1:p.Arg5435Gln
ENST00000688411.1:c.772G>A	ENSP00000510146.1:n.772G>A
ENST00000691932.1:c.296G>A	ENSP00000509037.1:p.Arg99Gln
ENST00000692637.1:c.16292G>A	ENSP00000509666.1:p.Arg5431Gln
ENST00000301067.12:c.16295G>A MANE Select	ENSP00000301067.7:p.Arg5432Gln
ENST00000301067.11:c.16295G>A	ENSP00000301067.7:p.Arg5432Gln
ENST00000526209.1:c.338G>A	ENSP00000435714.1:p.Arg113Gln
NM_003482.3:c.16295G>A	NP_003473.3:p.Arg5432Gln
XM_005269162.3:c.16295G>A	XP_005269219.1:p.Arg5432Gln
XM_006719614.2:c.16304G>A	XP_006719677.1:p.Arg5435Gln
XM_006719616.2:c.16292G>A	XP_006719679.1:p.Arg5431Gln
XM_011538770.1:c.16352G>A	XP_011537072.1:p.Arg5451Gln
XM_011538771.1:c.16349G>A	XP_011537073.1:p.Arg5450Gln
XM_011538772.1:c.16343G>A	XP_011537074.1:p.Arg5448Gln
XM_011538773.1:c.16340G>A	XP_011537075.1:p.Arg5447Gln
XM_011538774.1:c.16331G>A	XP_011537076.1:p.Arg5444Gln
XM_011538775.1:c.16286G>A	XP_011537077.1:p.Arg5429Gln
XM_011538776.1:c.16259G>A	XP_011537078.1:p.Arg5420Gln
XM_005269162.4:c.16295G>A	XP_005269219.1:p.Arg5432Gln
XM_006719614.4:c.16304G>A	XP_006719677.1:p.Arg5435Gln
XM_006719616.3:c.16292G>A	XP_006719679.1:p.Arg5431Gln
XM_011538770.2:c.16352G>A	XP_011537072.1:p.Arg5451Gln
XM_011538771.2:c.16349G>A	XP_011537073.1:p.Arg5450Gln
XM_011538772.2:c.16343G>A	XP_011537074.1:p.Arg5448Gln
XM_011538773.2:c.16340G>A	XP_011537075.1:p.Arg5447Gln
XM_011538774.2:c.16331G>A	XP_011537076.1:p.Arg5444Gln
XM_011538776.2:c.16259G>A	XP_011537078.1:p.Arg5420Gln
XR_001748874.1:n.16472G>A
NM_003482.4:c.16295G>A MANE Select	NP_003473.3:p.Arg5432Gln