Canonical Allele Identifier: CA271506

Gene: EZH2

Linked Data

• ClinVar Variation Id: 158579
• ClinVar RCV Id: RCV000145972 ; RCV001249312
• dbSNP Id: rs587783625
• gnomAD v4: 7-148811696-C-T
• COSMIC: COSM1000723 ; COSM3942110
• MyVariant Identifiers: chr7:g.148508788C>T (hg19) ; chr7:g.148811696C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.148811696C>T , CM000669.2:g.148811696C>T	GRCh38
NC_000007.13:g.148508788C>T , CM000669.1:g.148508788C>T	GRCh37
NC_000007.12:g.148139721C>T	NCBI36
NG_032043.1:g.77654G>A , LRG_531:g.77654G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682263.1:n.3776G>A
ENST00000682317.1:c.*938G>A	ENSP00000508286.1:n.*938G>A
ENST00000683292.1:c.*772G>A	ENSP00000507503.1:n.*772G>A
ENST00000683293.1:n.3595G>A
ENST00000683744.1:c.*938G>A	ENSP00000506949.1:n.*938G>A
ENST00000684300.1:c.*938G>A	ENSP00000508407.1:n.*938G>A
ENST00000684400.1:n.2767G>A
ENST00000684436.1:n.2192G>A
ENST00000684510.1:n.2254G>A
ENST00000320356.7:c.1876G>A MANE Select	ENSP00000320147.2:p.Val626Met
ENST00000320356.6:c.1876G>A	ENSP00000320147.2:p.Val626Met
ENST00000350995.6:c.1744G>A	ENSP00000223193.2:p.Val582Met
ENST00000460911.5:c.1861G>A	ENSP00000419711.1:p.Val621Met
ENST00000469631.1:n.128G>A
ENST00000476773.5:c.1708G>A	ENSP00000419050.1:p.Val570Met
ENST00000478654.5:c.1708G>A	ENSP00000417062.1:p.Val570Met
ENST00000483967.5:c.1834G>A	ENSP00000419856.1:p.Val612Met
ENST00000492143.5:c.*1866G>A	ENSP00000417377.1:n.*1866G>A
NM_001203247.1:c.1861G>A	NP_001190176.1:p.Val621Met
NM_001203248.1:c.1834G>A	NP_001190177.1:p.Val612Met
NM_001203249.1:c.1708G>A	NP_001190178.1:p.Val570Met
NM_004456.4:c.1876G>A , LRG_531t1:c.1876G>A	NP_004447.2:p.Val626Met
NM_152998.2:c.1744G>A	NP_694543.1:p.Val582Met
XM_005249962.3:c.1885G>A	XP_005250019.1:p.Val629Met
XM_005249963.3:c.1858G>A	XP_005250020.1:p.Val620Met
XM_005249964.3:c.1732G>A	XP_005250021.1:p.Val578Met
XM_011515883.1:c.1900G>A	XP_011514185.1:p.Val634Met
XM_011515884.1:c.1876G>A	XP_011514186.1:p.Val626Met
XM_011515885.1:c.1873G>A	XP_011514187.1:p.Val625Met
XM_011515886.1:c.1852G>A	XP_011514188.1:p.Val618Met
XM_011515887.1:c.1849G>A	XP_011514189.1:p.Val617Met
XM_011515888.1:c.1849G>A	XP_011514190.1:p.Val617Met
XM_011515889.1:c.1810G>A	XP_011514191.1:p.Val604Met
XM_011515890.1:c.1783G>A	XP_011514192.1:p.Val595Met
XM_011515891.1:c.1777G>A	XP_011514193.1:p.Val593Met
XM_011515892.1:c.1774G>A	XP_011514194.1:p.Val592Met
XM_011515893.1:c.1768G>A	XP_011514195.1:p.Val590Met
XM_011515894.1:c.1759G>A	XP_011514196.1:p.Val587Met
XM_011515895.1:c.1756G>A	XP_011514197.1:p.Val586Met
XM_011515896.1:c.1642G>A	XP_011514198.1:p.Val548Met
XM_011515897.1:c.1549G>A	XP_011514199.1:p.Val517Met
XM_011515898.1:c.1549G>A	XP_011514200.1:p.Val517Met
XR_928101.1:n.515+6611C>T
XR_928102.1:n.722+6611C>T
XM_005249962.4:c.1885G>A	XP_005250019.1:p.Val629Met
XM_005249963.4:c.1858G>A	XP_005250020.1:p.Val620Met
XM_005249964.4:c.1732G>A	XP_005250021.1:p.Val578Met
XM_011515883.2:c.1900G>A	XP_011514185.1:p.Val634Met
XM_011515884.2:c.1876G>A	XP_011514186.1:p.Val626Met
XM_011515885.2:c.1873G>A	XP_011514187.1:p.Val625Met
XM_011515886.2:c.1852G>A	XP_011514188.1:p.Val618Met
XM_011515887.3:c.1849G>A	XP_011514189.1:p.Val617Met
XM_011515888.2:c.1849G>A	XP_011514190.1:p.Val617Met
XM_011515889.2:c.1810G>A	XP_011514191.1:p.Val604Met
XM_011515890.2:c.1783G>A	XP_011514192.1:p.Val595Met
XM_011515891.3:c.1777G>A	XP_011514193.1:p.Val593Met
XM_011515892.2:c.1774G>A	XP_011514194.1:p.Val592Met
XM_011515893.2:c.1768G>A	XP_011514195.1:p.Val590Met
XM_011515894.2:c.1759G>A	XP_011514196.1:p.Val587Met
XM_011515895.2:c.1756G>A	XP_011514197.1:p.Val586Met
XM_011515896.2:c.1642G>A	XP_011514198.1:p.Val548Met
XM_011515897.2:c.1549G>A	XP_011514199.1:p.Val517Met
XM_011515898.2:c.1549G>A	XP_011514200.1:p.Val517Met
XM_017011817.2:c.1900G>A	XP_016867306.1:p.Val634Met
XM_017011818.1:c.1837G>A	XP_016867307.1:p.Val613Met
XM_017011819.1:c.1759G>A	XP_016867308.1:p.Val587Met
XM_017011820.2:c.1732G>A	XP_016867309.1:p.Val578Met
XM_017011821.1:c.1534G>A	XP_016867310.1:p.Val512Met
XM_024446680.1:c.1762G>A	XP_024302448.1:p.Val588Met
XR_001744581.1:n.4250G>A
XR_002956413.1:n.4906G>A
XR_002956414.1:n.5366G>A
NM_001203247.2:c.1861G>A	NP_001190176.1:p.Val621Met
NM_001203248.2:c.1834G>A	NP_001190177.1:p.Val612Met
NM_001203249.2:c.1708G>A	NP_001190178.1:p.Val570Met
NM_004456.5:c.1876G>A MANE Select	NP_004447.2:p.Val626Met
NM_152998.3:c.1744G>A	NP_694543.1:p.Val582Met