Canonical Allele Identifier: CA271598

Gene: KMT2D

Linked Data

• ClinVar Variation Id: 158735
• ClinVar RCV Id: RCV000146175
• dbSNP Id: rs587783696
• COSMIC: COSM6205641 ; COSM6205642
• MyVariant Identifiers: chr12:g.49420554C>T (hg19) ; chr12:g.49026771C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49026771C>T , CM000674.2:g.49026771C>T	GRCh38
NC_000012.11:g.49420554C>T , CM000674.1:g.49420554C>T	GRCh37
NC_000012.10:g.47706821C>T	NCBI36
NG_027827.1:g.33554G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683543.2:c.15195G>A	ENSP00000506726.1:p.Trp5065Ter
ENST00000685024.1:c.320G>A
ENST00000685166.1:c.15204G>A	ENSP00000509386.1:p.Trp5068Ter
ENST00000688411.1:c.261+1032G>A	ENSP00000510146.1:n.261+1032G>A
ENST00000691463.1:c.581G>A	ENSP00000510624.1:n.581G>A
ENST00000692637.1:c.15192G>A	ENSP00000509666.1:p.Trp5064Ter
ENST00000301067.12:c.15195G>A MANE Select	ENSP00000301067.7:p.Trp5065Ter
ENST00000301067.11:c.15195G>A	ENSP00000301067.7:p.Trp5065Ter
NM_003482.3:c.15195G>A	NP_003473.3:p.Trp5065Ter
XM_005269162.3:c.15195G>A	XP_005269219.1:p.Trp5065Ter
XM_006719614.2:c.15204G>A	XP_006719677.1:p.Trp5068Ter
XM_006719616.2:c.15192G>A	XP_006719679.1:p.Trp5064Ter
XM_011538770.1:c.15204G>A	XP_011537072.1:p.Trp5068Ter
XM_011538771.1:c.15201G>A	XP_011537073.1:p.Trp5067Ter
XM_011538772.1:c.15195G>A	XP_011537074.1:p.Trp5065Ter
XM_011538773.1:c.15192G>A	XP_011537075.1:p.Trp5064Ter
XM_011538774.1:c.15183G>A	XP_011537076.1:p.Trp5061Ter
XM_011538775.1:c.15138G>A	XP_011537077.1:p.Trp5046Ter
XM_011538776.1:c.15111G>A	XP_011537078.1:p.Trp5037Ter
XR_944740.1:n.16972+1032G>A
XM_005269162.4:c.15195G>A	XP_005269219.1:p.Trp5065Ter
XM_006719614.4:c.15204G>A	XP_006719677.1:p.Trp5068Ter
XM_006719616.3:c.15192G>A	XP_006719679.1:p.Trp5064Ter
XM_011538770.2:c.15204G>A	XP_011537072.1:p.Trp5068Ter
XM_011538771.2:c.15201G>A	XP_011537073.1:p.Trp5067Ter
XM_011538772.2:c.15195G>A	XP_011537074.1:p.Trp5065Ter
XM_011538773.2:c.15192G>A	XP_011537075.1:p.Trp5064Ter
XM_011538774.2:c.15183G>A	XP_011537076.1:p.Trp5061Ter
XM_011538776.2:c.15111G>A	XP_011537078.1:p.Trp5037Ter
XR_001748874.1:n.15961+1032G>A
NM_003482.4:c.15195G>A MANE Select	NP_003473.3:p.Trp5065Ter