Canonical Allele Identifier: CA234161

Gene: KMT2D

Linked Data

• ClinVar Variation Id: 7539
• ClinVar RCV Id: RCV000007975 ; RCV000153405 ; RCV003588559
• dbSNP Id: rs267607238
• COSMIC: COSM939964 ; COSM939965
• MyVariant Identifiers: chr12:g.49416084G>A (hg19) ; chr12:g.49022301G>A (hg38)
• PubMed: PMID:20711175

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49022301G>A , CM000674.2:g.49022301G>A	GRCh38
NC_000012.11:g.49416084G>A , CM000674.1:g.49416084G>A	GRCh37
NC_000012.10:g.47702351G>A	NCBI36
NG_027827.1:g.38024C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526209.2:c.361C>T
ENST00000681974.1:n.1063C>T
ENST00000682693.1:n.2025C>T
ENST00000682886.1:n.797C>T
ENST00000683543.2:c.16439C>T	ENSP00000506726.1:p.Thr5480Met
ENST00000683988.1:c.362C>T	ENSP00000506939.1:p.Thr121Met
ENST00000684428.1:c.984C>T	ENSP00000507433.1:n.984C>T
ENST00000685024.1:c.1545C>T
ENST00000685166.1:c.16400C>T	ENSP00000509386.1:p.Thr5467Met
ENST00000691932.1:c.392C>T	ENSP00000509037.1:p.Thr131Met
ENST00000692637.1:c.16388C>T	ENSP00000509666.1:p.Thr5463Met
ENST00000301067.12:c.16391C>T MANE Select	ENSP00000301067.7:p.Thr5464Met
ENST00000301067.11:c.16391C>T	ENSP00000301067.7:p.Thr5464Met
ENST00000526209.1:c.434C>T	ENSP00000435714.1:p.Thr145Met
NM_003482.3:c.16391C>T	NP_003473.3:p.Thr5464Met
XM_005269162.3:c.16391C>T	XP_005269219.1:p.Thr5464Met
XM_006719614.2:c.16400C>T	XP_006719677.1:p.Thr5467Met
XM_006719616.2:c.16388C>T	XP_006719679.1:p.Thr5463Met
XM_011538770.1:c.16448C>T	XP_011537072.1:p.Thr5483Met
XM_011538771.1:c.16445C>T	XP_011537073.1:p.Thr5482Met
XM_011538772.1:c.16439C>T	XP_011537074.1:p.Thr5480Met
XM_011538773.1:c.16436C>T	XP_011537075.1:p.Thr5479Met
XM_011538774.1:c.16427C>T	XP_011537076.1:p.Thr5476Met
XM_011538775.1:c.16382C>T	XP_011537077.1:p.Thr5461Met
XM_011538776.1:c.16355C>T	XP_011537078.1:p.Thr5452Met
XM_005269162.4:c.16391C>T	XP_005269219.1:p.Thr5464Met
XM_006719614.4:c.16400C>T	XP_006719677.1:p.Thr5467Met
XM_006719616.3:c.16388C>T	XP_006719679.1:p.Thr5463Met
XM_011538770.2:c.16448C>T	XP_011537072.1:p.Thr5483Met
XM_011538771.2:c.16445C>T	XP_011537073.1:p.Thr5482Met
XM_011538772.2:c.16439C>T	XP_011537074.1:p.Thr5480Met
XM_011538773.2:c.16436C>T	XP_011537075.1:p.Thr5479Met
XM_011538774.2:c.16427C>T	XP_011537076.1:p.Thr5476Met
XM_011538776.2:c.16355C>T	XP_011537078.1:p.Thr5452Met
XR_001748874.1:n.16568C>T
NM_003482.4:c.16391C>T MANE Select	NP_003473.3:p.Thr5464Met