Canonical Allele Identifier: CA271579

Gene: KMT2D

Linked Data

• ClinVar Variation Id: 158722
• ClinVar RCV Id: RCV000146159 ; RCV000624920 ; RCV000707588 ; RCV001548390
• dbSNP Id: rs587783685
• COSMIC: COSM1512054 ; COSM1512055
• MyVariant Identifiers: chr12:g.49425896G>A (hg19) ; chr12:g.49032113G>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.49032113G>A , CM000674.2:g.49032113G>A	GRCh38
NC_000012.11:g.49425896G>A , CM000674.1:g.49425896G>A	GRCh37
NC_000012.10:g.47712163G>A	NCBI36
NG_027827.1:g.28212C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683543.2:c.12592C>T	ENSP00000506726.1:p.Arg4198Ter
ENST00000685166.1:c.12601C>T	ENSP00000509386.1:p.Arg4201Ter
ENST00000685554.1:c.1752+400C>T	ENSP00000508640.1:n.1752+400C>T
ENST00000692637.1:c.12589C>T	ENSP00000509666.1:p.Arg4197Ter
ENST00000692841.1:c.4071C>T	ENSP00000508711.1:n.4071C>T
ENST00000301067.12:c.12592C>T MANE Select	ENSP00000301067.7:p.Arg4198Ter
ENST00000301067.11:c.12592C>T	ENSP00000301067.7:p.Arg4198Ter
NM_003482.3:c.12592C>T	NP_003473.3:p.Arg4198Ter
XM_005269162.3:c.12592C>T	XP_005269219.1:p.Arg4198Ter
XM_006719614.2:c.12601C>T	XP_006719677.1:p.Arg4201Ter
XM_006719616.2:c.12589C>T	XP_006719679.1:p.Arg4197Ter
XM_011538770.1:c.12601C>T	XP_011537072.1:p.Arg4201Ter
XM_011538771.1:c.12598C>T	XP_011537073.1:p.Arg4200Ter
XM_011538772.1:c.12592C>T	XP_011537074.1:p.Arg4198Ter
XM_011538773.1:c.12589C>T	XP_011537075.1:p.Arg4197Ter
XM_011538774.1:c.12580C>T	XP_011537076.1:p.Arg4194Ter
XM_011538775.1:c.12601C>T	XP_011537077.1:p.Arg4201Ter
XM_011538776.1:c.12508C>T	XP_011537078.1:p.Arg4170Ter
XR_944740.1:n.14921C>T
XM_005269162.4:c.12592C>T	XP_005269219.1:p.Arg4198Ter
XM_006719614.4:c.12601C>T	XP_006719677.1:p.Arg4201Ter
XM_006719616.3:c.12589C>T	XP_006719679.1:p.Arg4197Ter
XM_011538770.2:c.12601C>T	XP_011537072.1:p.Arg4201Ter
XM_011538771.2:c.12598C>T	XP_011537073.1:p.Arg4200Ter
XM_011538772.2:c.12592C>T	XP_011537074.1:p.Arg4198Ter
XM_011538773.2:c.12589C>T	XP_011537075.1:p.Arg4197Ter
XM_011538774.2:c.12580C>T	XP_011537076.1:p.Arg4194Ter
XM_011538776.2:c.12508C>T	XP_011537078.1:p.Arg4170Ter
XR_001748874.1:n.13910C>T
NM_003482.4:c.12592C>T MANE Select	NP_003473.3:p.Arg4198Ter