Canonical Allele Identifier: CA369712604

Gene: EZH2

Linked Data

• MyVariant Identifiers: chr7:g.148507456G>C (hg19) ; chr7:g.148810364G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.148810364G>C , CM000669.2:g.148810364G>C	GRCh38
NC_000007.13:g.148507456G>C , CM000669.1:g.148507456G>C	GRCh37
NC_000007.12:g.148138389G>C	NCBI36
NG_032043.1:g.78986C>G , LRG_531:g.78986C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682263.1:n.3898C>G
ENST00000682317.1:c.*1060C>G	ENSP00000508286.1:n.*1060C>G
ENST00000683292.1:c.*894C>G	ENSP00000507503.1:n.*894C>G
ENST00000683293.1:n.3717C>G
ENST00000683744.1:c.*1060C>G	ENSP00000506949.1:n.*1060C>G
ENST00000684300.1:c.*1060C>G	ENSP00000508407.1:n.*1060C>G
ENST00000684400.1:n.2889C>G
ENST00000684436.1:n.2314C>G
ENST00000684510.1:n.2376C>G
ENST00000320356.7:c.1998C>G MANE Select	ENSP00000320147.2:p.Tyr666Ter
ENST00000320356.6:c.1998C>G	ENSP00000320147.2:p.Tyr666Ter
ENST00000350995.6:c.1866C>G	ENSP00000223193.2:p.Tyr622Ter
ENST00000460911.5:c.1983C>G	ENSP00000419711.1:p.Tyr661Ter
ENST00000469631.1:n.250C>G
ENST00000476773.5:c.1830C>G	ENSP00000419050.1:p.Tyr610Ter
ENST00000478654.5:c.1830C>G	ENSP00000417062.1:p.Tyr610Ter
ENST00000483967.5:c.1956C>G	ENSP00000419856.1:p.Tyr652Ter
ENST00000492143.5:c.*1988C>G	ENSP00000417377.1:n.*1988C>G
NM_001203247.1:c.1983C>G	NP_001190176.1:p.Tyr661Ter
NM_001203248.1:c.1956C>G	NP_001190177.1:p.Tyr652Ter
NM_001203249.1:c.1830C>G	NP_001190178.1:p.Tyr610Ter
NM_004456.4:c.1998C>G , LRG_531t1:c.1998C>G	NP_004447.2:p.Tyr666Ter
NM_152998.2:c.1866C>G	NP_694543.1:p.Tyr622Ter
XM_005249962.3:c.2007C>G	XP_005250019.1:p.Tyr669Ter
XM_005249963.3:c.1980C>G	XP_005250020.1:p.Tyr660Ter
XM_005249964.3:c.1854C>G	XP_005250021.1:p.Tyr618Ter
XM_011515883.1:c.2022C>G	XP_011514185.1:p.Tyr674Ter
XM_011515884.1:c.1998C>G	XP_011514186.1:p.Tyr666Ter
XM_011515885.1:c.1995C>G	XP_011514187.1:p.Tyr665Ter
XM_011515886.1:c.1974C>G	XP_011514188.1:p.Tyr658Ter
XM_011515887.1:c.1971C>G	XP_011514189.1:p.Tyr657Ter
XM_011515888.1:c.1971C>G	XP_011514190.1:p.Tyr657Ter
XM_011515889.1:c.1932C>G	XP_011514191.1:p.Tyr644Ter
XM_011515890.1:c.1905C>G	XP_011514192.1:p.Tyr635Ter
XM_011515891.1:c.1899C>G	XP_011514193.1:p.Tyr633Ter
XM_011515892.1:c.1896C>G	XP_011514194.1:p.Tyr632Ter
XM_011515893.1:c.1890C>G	XP_011514195.1:p.Tyr630Ter
XM_011515894.1:c.1881C>G	XP_011514196.1:p.Tyr627Ter
XM_011515895.1:c.1878C>G	XP_011514197.1:p.Tyr626Ter
XM_011515896.1:c.1764C>G	XP_011514198.1:p.Tyr588Ter
XM_011515897.1:c.1671C>G	XP_011514199.1:p.Tyr557Ter
XM_011515898.1:c.1671C>G	XP_011514200.1:p.Tyr557Ter
XR_928101.1:n.515+5279G>C
XR_928102.1:n.722+5279G>C
XM_005249962.4:c.2007C>G	XP_005250019.1:p.Tyr669Ter
XM_005249963.4:c.1980C>G	XP_005250020.1:p.Tyr660Ter
XM_005249964.4:c.1854C>G	XP_005250021.1:p.Tyr618Ter
XM_011515883.2:c.2022C>G	XP_011514185.1:p.Tyr674Ter
XM_011515884.2:c.1998C>G	XP_011514186.1:p.Tyr666Ter
XM_011515885.2:c.1995C>G	XP_011514187.1:p.Tyr665Ter
XM_011515886.2:c.1974C>G	XP_011514188.1:p.Tyr658Ter
XM_011515887.3:c.1971C>G	XP_011514189.1:p.Tyr657Ter
XM_011515888.2:c.1971C>G	XP_011514190.1:p.Tyr657Ter
XM_011515889.2:c.1932C>G	XP_011514191.1:p.Tyr644Ter
XM_011515890.2:c.1905C>G	XP_011514192.1:p.Tyr635Ter
XM_011515891.3:c.1899C>G	XP_011514193.1:p.Tyr633Ter
XM_011515892.2:c.1896C>G	XP_011514194.1:p.Tyr632Ter
XM_011515893.2:c.1890C>G	XP_011514195.1:p.Tyr630Ter
XM_011515894.2:c.1881C>G	XP_011514196.1:p.Tyr627Ter
XM_011515895.2:c.1878C>G	XP_011514197.1:p.Tyr626Ter
XM_011515896.2:c.1764C>G	XP_011514198.1:p.Tyr588Ter
XM_011515897.2:c.1671C>G	XP_011514199.1:p.Tyr557Ter
XM_011515898.2:c.1671C>G	XP_011514200.1:p.Tyr557Ter
XM_017011817.2:c.2022C>G	XP_016867306.1:p.Tyr674Ter
XM_017011818.1:c.1959C>G	XP_016867307.1:p.Tyr653Ter
XM_017011819.1:c.1881C>G	XP_016867308.1:p.Tyr627Ter
XM_017011820.2:c.1854C>G	XP_016867309.1:p.Tyr618Ter
XM_017011821.1:c.1656C>G	XP_016867310.1:p.Tyr552Ter
XM_024446680.1:c.1884C>G	XP_024302448.1:p.Tyr628Ter
XR_001744581.1:n.4372C>G
XR_002956413.1:n.5028C>G
XR_002956414.1:n.5488C>G
NM_001203247.2:c.1983C>G	NP_001190176.1:p.Tyr661Ter
NM_001203248.2:c.1956C>G	NP_001190177.1:p.Tyr652Ter
NM_001203249.2:c.1830C>G	NP_001190178.1:p.Tyr610Ter
NM_004456.5:c.1998C>G MANE Select	NP_004447.2:p.Tyr666Ter
NM_152998.3:c.1866C>G	NP_694543.1:p.Tyr622Ter