Canonical Allele Identifier: CA16602671

Gene: EZH2

Linked Data

• ClinVar Variation Id: 376218
• ClinVar RCV Id: RCV000423969 ; RCV000433156 ; RCV000441670
• dbSNP Id: rs267601394
• COSMIC: COSM37029 ; COSM220730
• MyVariant Identifiers: chr7:g.148508727T>G (hg19) ; chr7:g.148811635T>G (hg38)
• PubMed: PMID:23023262 ; PMID:26619011

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.148811635T>G , CM000669.2:g.148811635T>G	GRCh38
NC_000007.13:g.148508727T>G , CM000669.1:g.148508727T>G	GRCh37
NC_000007.12:g.148139660T>G	NCBI36
NG_032043.1:g.77715A>C , LRG_531:g.77715A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682263.1:n.3837A>C
ENST00000682317.1:c.*999A>C	ENSP00000508286.1:n.*999A>C
ENST00000683292.1:c.*833A>C	ENSP00000507503.1:n.*833A>C
ENST00000683293.1:n.3656A>C
ENST00000683744.1:c.*999A>C	ENSP00000506949.1:n.*999A>C
ENST00000684300.1:c.*999A>C	ENSP00000508407.1:n.*999A>C
ENST00000684400.1:n.2828A>C
ENST00000684436.1:n.2253A>C
ENST00000684510.1:n.2315A>C
ENST00000320356.7:c.1937A>C MANE Select	ENSP00000320147.2:p.Tyr646Ser
ENST00000320356.6:c.1937A>C	ENSP00000320147.2:p.Tyr646Ser
ENST00000350995.6:c.1805A>C	ENSP00000223193.2:p.Tyr602Ser
ENST00000460911.5:c.1922A>C	ENSP00000419711.1:p.Tyr641Ser
ENST00000469631.1:n.189A>C
ENST00000476773.5:c.1769A>C	ENSP00000419050.1:p.Tyr590Ser
ENST00000478654.5:c.1769A>C	ENSP00000417062.1:p.Tyr590Ser
ENST00000483967.5:c.1895A>C	ENSP00000419856.1:p.Tyr632Ser
ENST00000492143.5:c.*1927A>C	ENSP00000417377.1:n.*1927A>C
NM_001203247.1:c.1922A>C	NP_001190176.1:p.Tyr641Ser
NM_001203248.1:c.1895A>C	NP_001190177.1:p.Tyr632Ser
NM_001203249.1:c.1769A>C	NP_001190178.1:p.Tyr590Ser
NM_004456.4:c.1937A>C , LRG_531t1:c.1937A>C	NP_004447.2:p.Tyr646Ser
NM_152998.2:c.1805A>C	NP_694543.1:p.Tyr602Ser
XM_005249962.3:c.1946A>C	XP_005250019.1:p.Tyr649Ser
XM_005249963.3:c.1919A>C	XP_005250020.1:p.Tyr640Ser
XM_005249964.3:c.1793A>C	XP_005250021.1:p.Tyr598Ser
XM_011515883.1:c.1961A>C	XP_011514185.1:p.Tyr654Ser
XM_011515884.1:c.1937A>C	XP_011514186.1:p.Tyr646Ser
XM_011515885.1:c.1934A>C	XP_011514187.1:p.Tyr645Ser
XM_011515886.1:c.1913A>C	XP_011514188.1:p.Tyr638Ser
XM_011515887.1:c.1910A>C	XP_011514189.1:p.Tyr637Ser
XM_011515888.1:c.1910A>C	XP_011514190.1:p.Tyr637Ser
XM_011515889.1:c.1871A>C	XP_011514191.1:p.Tyr624Ser
XM_011515890.1:c.1844A>C	XP_011514192.1:p.Tyr615Ser
XM_011515891.1:c.1838A>C	XP_011514193.1:p.Tyr613Ser
XM_011515892.1:c.1835A>C	XP_011514194.1:p.Tyr612Ser
XM_011515893.1:c.1829A>C	XP_011514195.1:p.Tyr610Ser
XM_011515894.1:c.1820A>C	XP_011514196.1:p.Tyr607Ser
XM_011515895.1:c.1817A>C	XP_011514197.1:p.Tyr606Ser
XM_011515896.1:c.1703A>C	XP_011514198.1:p.Tyr568Ser
XM_011515897.1:c.1610A>C	XP_011514199.1:p.Tyr537Ser
XM_011515898.1:c.1610A>C	XP_011514200.1:p.Tyr537Ser
XR_928101.1:n.515+6550T>G
XR_928102.1:n.722+6550T>G
XM_005249962.4:c.1946A>C	XP_005250019.1:p.Tyr649Ser
XM_005249963.4:c.1919A>C	XP_005250020.1:p.Tyr640Ser
XM_005249964.4:c.1793A>C	XP_005250021.1:p.Tyr598Ser
XM_011515883.2:c.1961A>C	XP_011514185.1:p.Tyr654Ser
XM_011515884.2:c.1937A>C	XP_011514186.1:p.Tyr646Ser
XM_011515885.2:c.1934A>C	XP_011514187.1:p.Tyr645Ser
XM_011515886.2:c.1913A>C	XP_011514188.1:p.Tyr638Ser
XM_011515887.3:c.1910A>C	XP_011514189.1:p.Tyr637Ser
XM_011515888.2:c.1910A>C	XP_011514190.1:p.Tyr637Ser
XM_011515889.2:c.1871A>C	XP_011514191.1:p.Tyr624Ser
XM_011515890.2:c.1844A>C	XP_011514192.1:p.Tyr615Ser
XM_011515891.3:c.1838A>C	XP_011514193.1:p.Tyr613Ser
XM_011515892.2:c.1835A>C	XP_011514194.1:p.Tyr612Ser
XM_011515893.2:c.1829A>C	XP_011514195.1:p.Tyr610Ser
XM_011515894.2:c.1820A>C	XP_011514196.1:p.Tyr607Ser
XM_011515895.2:c.1817A>C	XP_011514197.1:p.Tyr606Ser
XM_011515896.2:c.1703A>C	XP_011514198.1:p.Tyr568Ser
XM_011515897.2:c.1610A>C	XP_011514199.1:p.Tyr537Ser
XM_011515898.2:c.1610A>C	XP_011514200.1:p.Tyr537Ser
XM_017011817.2:c.1961A>C	XP_016867306.1:p.Tyr654Ser
XM_017011818.1:c.1898A>C	XP_016867307.1:p.Tyr633Ser
XM_017011819.1:c.1820A>C	XP_016867308.1:p.Tyr607Ser
XM_017011820.2:c.1793A>C	XP_016867309.1:p.Tyr598Ser
XM_017011821.1:c.1595A>C	XP_016867310.1:p.Tyr532Ser
XM_024446680.1:c.1823A>C	XP_024302448.1:p.Tyr608Ser
XR_001744581.1:n.4311A>C
XR_002956413.1:n.4967A>C
XR_002956414.1:n.5427A>C
NM_001203247.2:c.1922A>C	NP_001190176.1:p.Tyr641Ser
NM_001203248.2:c.1895A>C	NP_001190177.1:p.Tyr632Ser
NM_001203249.2:c.1769A>C	NP_001190178.1:p.Tyr590Ser
NM_004456.5:c.1937A>C MANE Select	NP_004447.2:p.Tyr646Ser
NM_152998.3:c.1805A>C	NP_694543.1:p.Tyr602Ser