Canonical Allele Identifier: CA369711878

Gene: EZH2

Linked Data

• ClinVar Variation Id: 3024349
• ClinVar RCV Id: RCV003883393
• COSMIC: COSM53041 ; COSM1319004
• MyVariant Identifiers: chr7:g.148506162C>T (hg19) ; chr7:g.148809070C>T (hg38)
• MutSpliceDB: CA369711878

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.148809070C>T , CM000669.2:g.148809070C>T	GRCh38
NC_000007.13:g.148506162C>T , CM000669.1:g.148506162C>T	GRCh37
NC_000007.12:g.148137095C>T	NCBI36
NG_032043.1:g.80280G>A , LRG_531:g.80280G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682263.1:n.4095+1G>A
ENST00000682317.1:c.*1257+1G>A	ENSP00000508286.1:n.*1257+1G>A
ENST00000683292.1:c.*1091+1G>A	ENSP00000507503.1:n.*1091+1G>A
ENST00000683293.1:n.3914+1G>A
ENST00000683744.1:c.*1257+1G>A	ENSP00000506949.1:n.*1257+1G>A
ENST00000684300.1:c.*1257+1G>A	ENSP00000508407.1:n.*1257+1G>A
ENST00000684400.1:n.4182+1G>A
ENST00000684436.1:n.2511+1G>A
ENST00000684510.1:n.2573+1G>A
ENST00000320356.7:c.2195+1G>A MANE Select	ENSP00000320147.2:n.2195+1G>A
ENST00000320356.6:c.2195+1G>A	ENSP00000320147.2:n.2195+1G>A
ENST00000350995.6:c.2063+1G>A	ENSP00000223193.2:n.2063+1G>A
ENST00000460911.5:c.2180+1G>A	ENSP00000419711.1:n.2180+1G>A
ENST00000476773.5:c.2027+1G>A	ENSP00000419050.1:n.2027+1G>A
ENST00000478654.5:c.2027+1G>A	ENSP00000417062.1:n.2027+1G>A
ENST00000483967.5:c.2153+1G>A	ENSP00000419856.1:n.2153+1G>A
ENST00000492143.5:c.*2185+1G>A	ENSP00000417377.1:n.*2185+1G>A
NM_001203247.1:c.2180+1G>A	NP_001190176.1:n.2180+1G>A
NM_001203248.1:c.2153+1G>A	NP_001190177.1:n.2153+1G>A
NM_001203249.1:c.2027+1G>A	NP_001190178.1:n.2027+1G>A
NM_004456.4:c.2195+1G>A , LRG_531t1:c.2195+1G>A	NP_004447.2:n.2195+1G>A
NM_152998.2:c.2063+1G>A	NP_694543.1:n.2063+1G>A
XM_005249962.3:c.2204+1G>A	XP_005250019.1:n.2204+1G>A
XM_005249963.3:c.2177+1G>A	XP_005250020.1:n.2177+1G>A
XM_005249964.3:c.2051+1G>A	XP_005250021.1:n.2051+1G>A
XM_011515883.1:c.2219+1G>A	XP_011514185.1:n.2219+1G>A
XM_011515884.1:c.2195+1G>A	XP_011514186.1:n.2195+1G>A
XM_011515885.1:c.2192+1G>A	XP_011514187.1:n.2192+1G>A
XM_011515886.1:c.2171+1G>A	XP_011514188.1:n.2171+1G>A
XM_011515887.1:c.2168+1G>A	XP_011514189.1:n.2168+1G>A
XM_011515888.1:c.2168+1G>A	XP_011514190.1:n.2168+1G>A
XM_011515889.1:c.2129+1G>A	XP_011514191.1:n.2129+1G>A
XM_011515890.1:c.2102+1G>A	XP_011514192.1:n.2102+1G>A
XM_011515891.1:c.2096+1G>A	XP_011514193.1:n.2096+1G>A
XM_011515892.1:c.2093+1G>A	XP_011514194.1:n.2093+1G>A
XM_011515893.1:c.2087+1G>A	XP_011514195.1:n.2087+1G>A
XM_011515894.1:c.2078+1G>A	XP_011514196.1:n.2078+1G>A
XM_011515895.1:c.2075+1G>A	XP_011514197.1:n.2075+1G>A
XM_011515896.1:c.1961+1G>A	XP_011514198.1:n.1961+1G>A
XM_011515897.1:c.1868+1G>A	XP_011514199.1:n.1868+1G>A
XM_011515898.1:c.1868+1G>A	XP_011514200.1:n.1868+1G>A
XR_928101.1:n.515+3985C>T
XR_928102.1:n.722+3985C>T
XM_005249962.4:c.2204+1G>A	XP_005250019.1:n.2204+1G>A
XM_005249963.4:c.2177+1G>A	XP_005250020.1:n.2177+1G>A
XM_005249964.4:c.2051+1G>A	XP_005250021.1:n.2051+1G>A
XM_011515883.2:c.2219+1G>A	XP_011514185.1:n.2219+1G>A
XM_011515884.2:c.2195+1G>A	XP_011514186.1:n.2195+1G>A
XM_011515885.2:c.2192+1G>A	XP_011514187.1:n.2192+1G>A
XM_011515886.2:c.2171+1G>A	XP_011514188.1:n.2171+1G>A
XM_011515887.3:c.2168+1G>A	XP_011514189.1:n.2168+1G>A
XM_011515888.2:c.2168+1G>A	XP_011514190.1:n.2168+1G>A
XM_011515889.2:c.2129+1G>A	XP_011514191.1:n.2129+1G>A
XM_011515890.2:c.2102+1G>A	XP_011514192.1:n.2102+1G>A
XM_011515891.3:c.2096+1G>A	XP_011514193.1:n.2096+1G>A
XM_011515892.2:c.2093+1G>A	XP_011514194.1:n.2093+1G>A
XM_011515893.2:c.2087+1G>A	XP_011514195.1:n.2087+1G>A
XM_011515894.2:c.2078+1G>A	XP_011514196.1:n.2078+1G>A
XM_011515895.2:c.2075+1G>A	XP_011514197.1:n.2075+1G>A
XM_011515896.2:c.1961+1G>A	XP_011514198.1:n.1961+1G>A
XM_011515897.2:c.1868+1G>A	XP_011514199.1:n.1868+1G>A
XM_011515898.2:c.1868+1G>A	XP_011514200.1:n.1868+1G>A
XM_017011817.2:c.2219+1G>A	XP_016867306.1:n.2219+1G>A
XM_017011818.1:c.2156+1G>A	XP_016867307.1:n.2156+1G>A
XM_017011819.1:c.2078+1G>A	XP_016867308.1:n.2078+1G>A
XM_017011820.2:c.2051+1G>A	XP_016867309.1:n.2051+1G>A
XM_017011821.1:c.1853+1G>A	XP_016867310.1:n.1853+1G>A
XM_024446680.1:c.2081+1G>A	XP_024302448.1:n.2081+1G>A
XR_001744581.1:n.4569+1G>A
XR_002956413.1:n.5225+1G>A
XR_002956414.1:n.5685+1G>A
NM_001203247.2:c.2180+1G>A	NP_001190176.1:n.2180+1G>A
NM_001203248.2:c.2153+1G>A	NP_001190177.1:n.2153+1G>A
NM_001203249.2:c.2027+1G>A	NP_001190178.1:n.2027+1G>A
NM_004456.5:c.2195+1G>A MANE Select	NP_004447.2:n.2195+1G>A
NM_152998.3:c.2063+1G>A	NP_694543.1:n.2063+1G>A