Canonical Allele Identifier: CA369712609

Gene: EZH2

Linked Data

• MyVariant Identifiers: chr7:g.148507457T>C (hg19) ; chr7:g.148810365T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.148810365T>C , CM000669.2:g.148810365T>C	GRCh38
NC_000007.13:g.148507457T>C , CM000669.1:g.148507457T>C	GRCh37
NC_000007.12:g.148138390T>C	NCBI36
NG_032043.1:g.78985A>G , LRG_531:g.78985A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682263.1:n.3897A>G
ENST00000682317.1:c.*1059A>G	ENSP00000508286.1:n.*1059A>G
ENST00000683292.1:c.*893A>G	ENSP00000507503.1:n.*893A>G
ENST00000683293.1:n.3716A>G
ENST00000683744.1:c.*1059A>G	ENSP00000506949.1:n.*1059A>G
ENST00000684300.1:c.*1059A>G	ENSP00000508407.1:n.*1059A>G
ENST00000684400.1:n.2888A>G
ENST00000684436.1:n.2313A>G
ENST00000684510.1:n.2375A>G
ENST00000320356.7:c.1997A>G MANE Select	ENSP00000320147.2:p.Tyr666Cys
ENST00000320356.6:c.1997A>G	ENSP00000320147.2:p.Tyr666Cys
ENST00000350995.6:c.1865A>G	ENSP00000223193.2:p.Tyr622Cys
ENST00000460911.5:c.1982A>G	ENSP00000419711.1:p.Tyr661Cys
ENST00000469631.1:n.249A>G
ENST00000476773.5:c.1829A>G	ENSP00000419050.1:p.Tyr610Cys
ENST00000478654.5:c.1829A>G	ENSP00000417062.1:p.Tyr610Cys
ENST00000483967.5:c.1955A>G	ENSP00000419856.1:p.Tyr652Cys
ENST00000492143.5:c.*1987A>G	ENSP00000417377.1:n.*1987A>G
NM_001203247.1:c.1982A>G	NP_001190176.1:p.Tyr661Cys
NM_001203248.1:c.1955A>G	NP_001190177.1:p.Tyr652Cys
NM_001203249.1:c.1829A>G	NP_001190178.1:p.Tyr610Cys
NM_004456.4:c.1997A>G , LRG_531t1:c.1997A>G	NP_004447.2:p.Tyr666Cys
NM_152998.2:c.1865A>G	NP_694543.1:p.Tyr622Cys
XM_005249962.3:c.2006A>G	XP_005250019.1:p.Tyr669Cys
XM_005249963.3:c.1979A>G	XP_005250020.1:p.Tyr660Cys
XM_005249964.3:c.1853A>G	XP_005250021.1:p.Tyr618Cys
XM_011515883.1:c.2021A>G	XP_011514185.1:p.Tyr674Cys
XM_011515884.1:c.1997A>G	XP_011514186.1:p.Tyr666Cys
XM_011515885.1:c.1994A>G	XP_011514187.1:p.Tyr665Cys
XM_011515886.1:c.1973A>G	XP_011514188.1:p.Tyr658Cys
XM_011515887.1:c.1970A>G	XP_011514189.1:p.Tyr657Cys
XM_011515888.1:c.1970A>G	XP_011514190.1:p.Tyr657Cys
XM_011515889.1:c.1931A>G	XP_011514191.1:p.Tyr644Cys
XM_011515890.1:c.1904A>G	XP_011514192.1:p.Tyr635Cys
XM_011515891.1:c.1898A>G	XP_011514193.1:p.Tyr633Cys
XM_011515892.1:c.1895A>G	XP_011514194.1:p.Tyr632Cys
XM_011515893.1:c.1889A>G	XP_011514195.1:p.Tyr630Cys
XM_011515894.1:c.1880A>G	XP_011514196.1:p.Tyr627Cys
XM_011515895.1:c.1877A>G	XP_011514197.1:p.Tyr626Cys
XM_011515896.1:c.1763A>G	XP_011514198.1:p.Tyr588Cys
XM_011515897.1:c.1670A>G	XP_011514199.1:p.Tyr557Cys
XM_011515898.1:c.1670A>G	XP_011514200.1:p.Tyr557Cys
XR_928101.1:n.515+5280T>C
XR_928102.1:n.722+5280T>C
XM_005249962.4:c.2006A>G	XP_005250019.1:p.Tyr669Cys
XM_005249963.4:c.1979A>G	XP_005250020.1:p.Tyr660Cys
XM_005249964.4:c.1853A>G	XP_005250021.1:p.Tyr618Cys
XM_011515883.2:c.2021A>G	XP_011514185.1:p.Tyr674Cys
XM_011515884.2:c.1997A>G	XP_011514186.1:p.Tyr666Cys
XM_011515885.2:c.1994A>G	XP_011514187.1:p.Tyr665Cys
XM_011515886.2:c.1973A>G	XP_011514188.1:p.Tyr658Cys
XM_011515887.3:c.1970A>G	XP_011514189.1:p.Tyr657Cys
XM_011515888.2:c.1970A>G	XP_011514190.1:p.Tyr657Cys
XM_011515889.2:c.1931A>G	XP_011514191.1:p.Tyr644Cys
XM_011515890.2:c.1904A>G	XP_011514192.1:p.Tyr635Cys
XM_011515891.3:c.1898A>G	XP_011514193.1:p.Tyr633Cys
XM_011515892.2:c.1895A>G	XP_011514194.1:p.Tyr632Cys
XM_011515893.2:c.1889A>G	XP_011514195.1:p.Tyr630Cys
XM_011515894.2:c.1880A>G	XP_011514196.1:p.Tyr627Cys
XM_011515895.2:c.1877A>G	XP_011514197.1:p.Tyr626Cys
XM_011515896.2:c.1763A>G	XP_011514198.1:p.Tyr588Cys
XM_011515897.2:c.1670A>G	XP_011514199.1:p.Tyr557Cys
XM_011515898.2:c.1670A>G	XP_011514200.1:p.Tyr557Cys
XM_017011817.2:c.2021A>G	XP_016867306.1:p.Tyr674Cys
XM_017011818.1:c.1958A>G	XP_016867307.1:p.Tyr653Cys
XM_017011819.1:c.1880A>G	XP_016867308.1:p.Tyr627Cys
XM_017011820.2:c.1853A>G	XP_016867309.1:p.Tyr618Cys
XM_017011821.1:c.1655A>G	XP_016867310.1:p.Tyr552Cys
XM_024446680.1:c.1883A>G	XP_024302448.1:p.Tyr628Cys
XR_001744581.1:n.4371A>G
XR_002956413.1:n.5027A>G
XR_002956414.1:n.5487A>G
NM_001203247.2:c.1982A>G	NP_001190176.1:p.Tyr661Cys
NM_001203248.2:c.1955A>G	NP_001190177.1:p.Tyr652Cys
NM_001203249.2:c.1829A>G	NP_001190178.1:p.Tyr610Cys
NM_004456.5:c.1997A>G MANE Select	NP_004447.2:p.Tyr666Cys
NM_152998.3:c.1865A>G	NP_694543.1:p.Tyr622Cys