Canonical Allele Identifier: CA2685465191

Gene: EZH2

Linked Data

• gnomAD v4: 7-148811650-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.148811651del , CM000669.2:g.148811651del	GRCh38
NC_000007.13:g.148508743del , CM000669.1:g.148508743del	GRCh37
NC_000007.12:g.148139676del	NCBI36
NG_032043.1:g.77699del , LRG_531:g.77699del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682263.1:n.3821del
ENST00000682317.1:c.*983del	ENSP00000508286.1:n.*983del
ENST00000683292.1:c.*817del	ENSP00000507503.1:n.*817del
ENST00000683293.1:n.3640del
ENST00000683744.1:c.*983del	ENSP00000506949.1:n.*983del
ENST00000684300.1:c.*983del	ENSP00000508407.1:n.*983del
ENST00000684400.1:n.2812del
ENST00000684436.1:n.2237del
ENST00000684510.1:n.2299del
ENST00000320356.7:c.1921del MANE Select	ENSP00000320147.2:p.Glu641AsnfsTer?
ENST00000320356.6:c.1921del	ENSP00000320147.2:p.Glu641AsnfsTer?
ENST00000350995.6:c.1789del	ENSP00000223193.2:p.Glu597AsnfsTer?
ENST00000460911.5:c.1906del	ENSP00000419711.1:p.Glu636AsnfsTer?
ENST00000469631.1:n.173del
ENST00000476773.5:c.1753del	ENSP00000419050.1:p.Glu585AsnfsTer?
ENST00000478654.5:c.1753del	ENSP00000417062.1:p.Glu585AsnfsTer?
ENST00000483967.5:c.1879del	ENSP00000419856.1:p.Glu627AsnfsTer?
ENST00000492143.5:c.*1911del	ENSP00000417377.1:n.*1911del
NM_001203247.1:c.1906del	NP_001190176.1:p.Glu636AsnfsTer?
NM_001203248.1:c.1879del	NP_001190177.1:p.Glu627AsnfsTer?
NM_001203249.1:c.1753del	NP_001190178.1:p.Glu585AsnfsTer?
NM_004456.4:c.1921del , LRG_531t1:c.1921del	NP_004447.2:p.Glu641AsnfsTer?
NM_152998.2:c.1789del	NP_694543.1:p.Glu597AsnfsTer?
XM_005249962.3:c.1930del	XP_005250019.1:p.Glu644AsnfsTer?
XM_005249963.3:c.1903del	XP_005250020.1:p.Glu635AsnfsTer?
XM_005249964.3:c.1777del	XP_005250021.1:p.Glu593AsnfsTer?
XM_011515883.1:c.1945del	XP_011514185.1:p.Glu649AsnfsTer?
XM_011515884.1:c.1921del	XP_011514186.1:p.Glu641AsnfsTer?
XM_011515885.1:c.1918del	XP_011514187.1:p.Glu640AsnfsTer?
XM_011515886.1:c.1897del	XP_011514188.1:p.Glu633AsnfsTer?
XM_011515887.1:c.1894del	XP_011514189.1:p.Glu632AsnfsTer?
XM_011515888.1:c.1894del	XP_011514190.1:p.Glu632AsnfsTer?
XM_011515889.1:c.1855del	XP_011514191.1:p.Glu619AsnfsTer?
XM_011515890.1:c.1828del	XP_011514192.1:p.Glu610AsnfsTer?
XM_011515891.1:c.1822del	XP_011514193.1:p.Glu608AsnfsTer?
XM_011515892.1:c.1819del	XP_011514194.1:p.Glu607AsnfsTer?
XM_011515893.1:c.1813del	XP_011514195.1:p.Glu605AsnfsTer?
XM_011515894.1:c.1804del	XP_011514196.1:p.Glu602AsnfsTer?
XM_011515895.1:c.1801del	XP_011514197.1:p.Glu601AsnfsTer?
XM_011515896.1:c.1687del	XP_011514198.1:p.Glu563AsnfsTer?
XM_011515897.1:c.1594del	XP_011514199.1:p.Glu532AsnfsTer?
XM_011515898.1:c.1594del	XP_011514200.1:p.Glu532AsnfsTer?
XR_928101.1:n.515+6566del
XR_928102.1:n.722+6566del
XM_005249962.4:c.1930del	XP_005250019.1:p.Glu644AsnfsTer?
XM_005249963.4:c.1903del	XP_005250020.1:p.Glu635AsnfsTer?
XM_005249964.4:c.1777del	XP_005250021.1:p.Glu593AsnfsTer?
XM_011515883.2:c.1945del	XP_011514185.1:p.Glu649AsnfsTer?
XM_011515884.2:c.1921del	XP_011514186.1:p.Glu641AsnfsTer?
XM_011515885.2:c.1918del	XP_011514187.1:p.Glu640AsnfsTer?
XM_011515886.2:c.1897del	XP_011514188.1:p.Glu633AsnfsTer?
XM_011515887.3:c.1894del	XP_011514189.1:p.Glu632AsnfsTer?
XM_011515888.2:c.1894del	XP_011514190.1:p.Glu632AsnfsTer?
XM_011515889.2:c.1855del	XP_011514191.1:p.Glu619AsnfsTer?
XM_011515890.2:c.1828del	XP_011514192.1:p.Glu610AsnfsTer?
XM_011515891.3:c.1822del	XP_011514193.1:p.Glu608AsnfsTer?
XM_011515892.2:c.1819del	XP_011514194.1:p.Glu607AsnfsTer?
XM_011515893.2:c.1813del	XP_011514195.1:p.Glu605AsnfsTer?
XM_011515894.2:c.1804del	XP_011514196.1:p.Glu602AsnfsTer?
XM_011515895.2:c.1801del	XP_011514197.1:p.Glu601AsnfsTer?
XM_011515896.2:c.1687del	XP_011514198.1:p.Glu563AsnfsTer?
XM_011515897.2:c.1594del	XP_011514199.1:p.Glu532AsnfsTer?
XM_011515898.2:c.1594del	XP_011514200.1:p.Glu532AsnfsTer?
XM_017011817.2:c.1945del	XP_016867306.1:p.Glu649AsnfsTer?
XM_017011818.1:c.1882del	XP_016867307.1:p.Glu628AsnfsTer?
XM_017011819.1:c.1804del	XP_016867308.1:p.Glu602AsnfsTer?
XM_017011820.2:c.1777del	XP_016867309.1:p.Glu593AsnfsTer?
XM_017011821.1:c.1579del	XP_016867310.1:p.Glu527AsnfsTer?
XM_024446680.1:c.1807del	XP_024302448.1:p.Glu603AsnfsTer?
XR_001744581.1:n.4295del
XR_002956413.1:n.4951del
XR_002956414.1:n.5411del
NM_001203247.2:c.1906del	NP_001190176.1:p.Glu636AsnfsTer?
NM_001203248.2:c.1879del	NP_001190177.1:p.Glu627AsnfsTer?
NM_001203249.2:c.1753del	NP_001190178.1:p.Glu585AsnfsTer?
NM_004456.5:c.1921del MANE Select	NP_004447.2:p.Glu641AsnfsTer?
NM_152998.3:c.1789del	NP_694543.1:p.Glu597AsnfsTer?