Canonical Allele Identifier: CA245837

Gene: KMT2D

Linked Data

• ClinVar Variation Id: 197586
• ClinVar RCV Id: RCV000178651 ; RCV000623497 ; RCV001852217
• dbSNP Id: rs794727688
• COSMIC: COSM5704466 ; COSM5704467
• MyVariant Identifiers: chr12:g.49420214G>A (hg19) ; chr12:g.49026431G>A (hg38)
• PubMed: PMID:3067577 ; PMID:9285441 ; PMID:12482968 ; PMID:14608645 ; PMID:14699623 ; PMID:16603732 ; PMID:20711175 ; PMID:21280141 ; PMID:21658225 ; PMID:21671394 ; PMID:22126750 ; PMID:22304445 ; PMID:23320472 ; PMID:25972376 ; PMID:26049589 ; PMID:26194542 ; PMID:26898171 ; PMID:27568880 ; PMID:27573763 ; PMID:27778401 ; PMID:27991736 ; PMID:28256057 ; PMID:28295206 ; PMID:28884889 ; PMID:28884922

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49026431G>A , CM000674.2:g.49026431G>A	GRCh38
NC_000012.11:g.49420214G>A , CM000674.1:g.49420214G>A	GRCh37
NC_000012.10:g.47706481G>A	NCBI36
NG_027827.1:g.33894C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683543.2:c.15535C>T	ENSP00000506726.1:p.Arg5179Cys
ENST00000683863.1:n.15C>T
ENST00000684428.1:c.70C>T	ENSP00000507433.1:p.Arg24Cys
ENST00000684755.1:n.70C>T
ENST00000685024.1:c.660C>T
ENST00000685166.1:c.15544C>T	ENSP00000509386.1:p.Arg5182Cys
ENST00000688411.1:c.261+1372C>T	ENSP00000510146.1:n.261+1372C>T
ENST00000691463.1:c.921C>T	ENSP00000510624.1:n.921C>T
ENST00000692637.1:c.15532C>T	ENSP00000509666.1:p.Arg5178Cys
ENST00000301067.12:c.15535C>T MANE Select	ENSP00000301067.7:p.Arg5179Cys
ENST00000301067.11:c.15535C>T	ENSP00000301067.7:p.Arg5179Cys
NM_003482.3:c.15535C>T	NP_003473.3:p.Arg5179Cys
XM_005269162.3:c.15535C>T	XP_005269219.1:p.Arg5179Cys
XM_006719614.2:c.15544C>T	XP_006719677.1:p.Arg5182Cys
XM_006719616.2:c.15532C>T	XP_006719679.1:p.Arg5178Cys
XM_011538770.1:c.15544C>T	XP_011537072.1:p.Arg5182Cys
XM_011538771.1:c.15541C>T	XP_011537073.1:p.Arg5181Cys
XM_011538772.1:c.15535C>T	XP_011537074.1:p.Arg5179Cys
XM_011538773.1:c.15532C>T	XP_011537075.1:p.Arg5178Cys
XM_011538774.1:c.15523C>T	XP_011537076.1:p.Arg5175Cys
XM_011538775.1:c.15478C>T	XP_011537077.1:p.Arg5160Cys
XM_011538776.1:c.15451C>T	XP_011537078.1:p.Arg5151Cys
XR_944740.1:n.16972+1372C>T
XM_005269162.4:c.15535C>T	XP_005269219.1:p.Arg5179Cys
XM_006719614.4:c.15544C>T	XP_006719677.1:p.Arg5182Cys
XM_006719616.3:c.15532C>T	XP_006719679.1:p.Arg5178Cys
XM_011538770.2:c.15544C>T	XP_011537072.1:p.Arg5182Cys
XM_011538771.2:c.15541C>T	XP_011537073.1:p.Arg5181Cys
XM_011538772.2:c.15535C>T	XP_011537074.1:p.Arg5179Cys
XM_011538773.2:c.15532C>T	XP_011537075.1:p.Arg5178Cys
XM_011538774.2:c.15523C>T	XP_011537076.1:p.Arg5175Cys
XM_011538776.2:c.15451C>T	XP_011537078.1:p.Arg5151Cys
XR_001748874.1:n.15961+1372C>T
NM_003482.4:c.15535C>T MANE Select	NP_003473.3:p.Arg5179Cys