Canonical Allele Identifier: CA16602260

Gene: EZH2

Linked Data

• ClinVar Variation Id: 76769
• ClinVar RCV Id: RCV000418998 ; RCV000429291 ; RCV000436489
• dbSNP Id: rs267601395
• COSMIC: COSM37030 ; COSM220732
• MyVariant Identifiers: chr7:g.148508728A>G (hg19) ; chr7:g.148811636A>G (hg38)
• PubMed: PMID:23023262 ; PMID:26619011

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.148811636A>G , CM000669.2:g.148811636A>G	GRCh38
NC_000007.13:g.148508728A>G , CM000669.1:g.148508728A>G	GRCh37
NC_000007.12:g.148139661A>G	NCBI36
NG_032043.1:g.77714T>C , LRG_531:g.77714T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682263.1:n.3836T>C
ENST00000682317.1:c.*998T>C	ENSP00000508286.1:n.*998T>C
ENST00000683292.1:c.*832T>C	ENSP00000507503.1:n.*832T>C
ENST00000683293.1:n.3655T>C
ENST00000683744.1:c.*998T>C	ENSP00000506949.1:n.*998T>C
ENST00000684300.1:c.*998T>C	ENSP00000508407.1:n.*998T>C
ENST00000684400.1:n.2827T>C
ENST00000684436.1:n.2252T>C
ENST00000684510.1:n.2314T>C
ENST00000320356.7:c.1936T>C MANE Select	ENSP00000320147.2:p.Tyr646His
ENST00000320356.6:c.1936T>C	ENSP00000320147.2:p.Tyr646His
ENST00000350995.6:c.1804T>C	ENSP00000223193.2:p.Tyr602His
ENST00000460911.5:c.1921T>C	ENSP00000419711.1:p.Tyr641His
ENST00000469631.1:n.188T>C
ENST00000476773.5:c.1768T>C	ENSP00000419050.1:p.Tyr590His
ENST00000478654.5:c.1768T>C	ENSP00000417062.1:p.Tyr590His
ENST00000483967.5:c.1894T>C	ENSP00000419856.1:p.Tyr632His
ENST00000492143.5:c.*1926T>C	ENSP00000417377.1:n.*1926T>C
NM_001203247.1:c.1921T>C	NP_001190176.1:p.Tyr641His
NM_001203248.1:c.1894T>C	NP_001190177.1:p.Tyr632His
NM_001203249.1:c.1768T>C	NP_001190178.1:p.Tyr590His
NM_004456.4:c.1936T>C , LRG_531t1:c.1936T>C	NP_004447.2:p.Tyr646His
NM_152998.2:c.1804T>C	NP_694543.1:p.Tyr602His
XM_005249962.3:c.1945T>C	XP_005250019.1:p.Tyr649His
XM_005249963.3:c.1918T>C	XP_005250020.1:p.Tyr640His
XM_005249964.3:c.1792T>C	XP_005250021.1:p.Tyr598His
XM_011515883.1:c.1960T>C	XP_011514185.1:p.Tyr654His
XM_011515884.1:c.1936T>C	XP_011514186.1:p.Tyr646His
XM_011515885.1:c.1933T>C	XP_011514187.1:p.Tyr645His
XM_011515886.1:c.1912T>C	XP_011514188.1:p.Tyr638His
XM_011515887.1:c.1909T>C	XP_011514189.1:p.Tyr637His
XM_011515888.1:c.1909T>C	XP_011514190.1:p.Tyr637His
XM_011515889.1:c.1870T>C	XP_011514191.1:p.Tyr624His
XM_011515890.1:c.1843T>C	XP_011514192.1:p.Tyr615His
XM_011515891.1:c.1837T>C	XP_011514193.1:p.Tyr613His
XM_011515892.1:c.1834T>C	XP_011514194.1:p.Tyr612His
XM_011515893.1:c.1828T>C	XP_011514195.1:p.Tyr610His
XM_011515894.1:c.1819T>C	XP_011514196.1:p.Tyr607His
XM_011515895.1:c.1816T>C	XP_011514197.1:p.Tyr606His
XM_011515896.1:c.1702T>C	XP_011514198.1:p.Tyr568His
XM_011515897.1:c.1609T>C	XP_011514199.1:p.Tyr537His
XM_011515898.1:c.1609T>C	XP_011514200.1:p.Tyr537His
XR_928101.1:n.515+6551A>G
XR_928102.1:n.722+6551A>G
XM_005249962.4:c.1945T>C	XP_005250019.1:p.Tyr649His
XM_005249963.4:c.1918T>C	XP_005250020.1:p.Tyr640His
XM_005249964.4:c.1792T>C	XP_005250021.1:p.Tyr598His
XM_011515883.2:c.1960T>C	XP_011514185.1:p.Tyr654His
XM_011515884.2:c.1936T>C	XP_011514186.1:p.Tyr646His
XM_011515885.2:c.1933T>C	XP_011514187.1:p.Tyr645His
XM_011515886.2:c.1912T>C	XP_011514188.1:p.Tyr638His
XM_011515887.3:c.1909T>C	XP_011514189.1:p.Tyr637His
XM_011515888.2:c.1909T>C	XP_011514190.1:p.Tyr637His
XM_011515889.2:c.1870T>C	XP_011514191.1:p.Tyr624His
XM_011515890.2:c.1843T>C	XP_011514192.1:p.Tyr615His
XM_011515891.3:c.1837T>C	XP_011514193.1:p.Tyr613His
XM_011515892.2:c.1834T>C	XP_011514194.1:p.Tyr612His
XM_011515893.2:c.1828T>C	XP_011514195.1:p.Tyr610His
XM_011515894.2:c.1819T>C	XP_011514196.1:p.Tyr607His
XM_011515895.2:c.1816T>C	XP_011514197.1:p.Tyr606His
XM_011515896.2:c.1702T>C	XP_011514198.1:p.Tyr568His
XM_011515897.2:c.1609T>C	XP_011514199.1:p.Tyr537His
XM_011515898.2:c.1609T>C	XP_011514200.1:p.Tyr537His
XM_017011817.2:c.1960T>C	XP_016867306.1:p.Tyr654His
XM_017011818.1:c.1897T>C	XP_016867307.1:p.Tyr633His
XM_017011819.1:c.1819T>C	XP_016867308.1:p.Tyr607His
XM_017011820.2:c.1792T>C	XP_016867309.1:p.Tyr598His
XM_017011821.1:c.1594T>C	XP_016867310.1:p.Tyr532His
XM_024446680.1:c.1822T>C	XP_024302448.1:p.Tyr608His
XR_001744581.1:n.4310T>C
XR_002956413.1:n.4966T>C
XR_002956414.1:n.5426T>C
NM_001203247.2:c.1921T>C	NP_001190176.1:p.Tyr641His
NM_001203248.2:c.1894T>C	NP_001190177.1:p.Tyr632His
NM_001203249.2:c.1768T>C	NP_001190178.1:p.Tyr590His
NM_004456.5:c.1936T>C MANE Select	NP_004447.2:p.Tyr646His
NM_152998.3:c.1804T>C	NP_694543.1:p.Tyr602His