Canonical Allele Identifier: CA369712384

Gene: EZH2

Linked Data

• MyVariant Identifiers: chr7:g.148506477C>G (hg19) ; chr7:g.148809385C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.148809385C>G , CM000669.2:g.148809385C>G	GRCh38
NC_000007.13:g.148506477C>G , CM000669.1:g.148506477C>G	GRCh37
NC_000007.12:g.148137410C>G	NCBI36
NG_032043.1:g.79965G>C , LRG_531:g.79965G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682263.1:n.3935G>C
ENST00000682317.1:c.*1097G>C	ENSP00000508286.1:n.*1097G>C
ENST00000683292.1:c.*931G>C	ENSP00000507503.1:n.*931G>C
ENST00000683293.1:n.3754G>C
ENST00000683744.1:c.*1097G>C	ENSP00000506949.1:n.*1097G>C
ENST00000684300.1:c.*1097G>C	ENSP00000508407.1:n.*1097G>C
ENST00000684400.1:n.3868G>C
ENST00000684436.1:n.2351G>C
ENST00000684510.1:n.2413G>C
ENST00000320356.7:c.2035G>C MANE Select	ENSP00000320147.2:p.Val679Leu
ENST00000320356.6:c.2035G>C	ENSP00000320147.2:p.Val679Leu
ENST00000350995.6:c.1903G>C	ENSP00000223193.2:p.Val635Leu
ENST00000460911.5:c.2020G>C	ENSP00000419711.1:p.Val674Leu
ENST00000476773.5:c.1867G>C	ENSP00000419050.1:p.Val623Leu
ENST00000478654.5:c.1867G>C	ENSP00000417062.1:p.Val623Leu
ENST00000483967.5:c.1993G>C	ENSP00000419856.1:p.Val665Leu
ENST00000492143.5:c.*2025G>C	ENSP00000417377.1:n.*2025G>C
NM_001203247.1:c.2020G>C	NP_001190176.1:p.Val674Leu
NM_001203248.1:c.1993G>C	NP_001190177.1:p.Val665Leu
NM_001203249.1:c.1867G>C	NP_001190178.1:p.Val623Leu
NM_004456.4:c.2035G>C , LRG_531t1:c.2035G>C	NP_004447.2:p.Val679Leu
NM_152998.2:c.1903G>C	NP_694543.1:p.Val635Leu
XM_005249962.3:c.2044G>C	XP_005250019.1:p.Val682Leu
XM_005249963.3:c.2017G>C	XP_005250020.1:p.Val673Leu
XM_005249964.3:c.1891G>C	XP_005250021.1:p.Val631Leu
XM_011515883.1:c.2059G>C	XP_011514185.1:p.Val687Leu
XM_011515884.1:c.2035G>C	XP_011514186.1:p.Val679Leu
XM_011515885.1:c.2032G>C	XP_011514187.1:p.Val678Leu
XM_011515886.1:c.2011G>C	XP_011514188.1:p.Val671Leu
XM_011515887.1:c.2008G>C	XP_011514189.1:p.Val670Leu
XM_011515888.1:c.2008G>C	XP_011514190.1:p.Val670Leu
XM_011515889.1:c.1969G>C	XP_011514191.1:p.Val657Leu
XM_011515890.1:c.1942G>C	XP_011514192.1:p.Val648Leu
XM_011515891.1:c.1936G>C	XP_011514193.1:p.Val646Leu
XM_011515892.1:c.1933G>C	XP_011514194.1:p.Val645Leu
XM_011515893.1:c.1927G>C	XP_011514195.1:p.Val643Leu
XM_011515894.1:c.1918G>C	XP_011514196.1:p.Val640Leu
XM_011515895.1:c.1915G>C	XP_011514197.1:p.Val639Leu
XM_011515896.1:c.1801G>C	XP_011514198.1:p.Val601Leu
XM_011515897.1:c.1708G>C	XP_011514199.1:p.Val570Leu
XM_011515898.1:c.1708G>C	XP_011514200.1:p.Val570Leu
XR_928101.1:n.515+4300C>G
XR_928102.1:n.722+4300C>G
XM_005249962.4:c.2044G>C	XP_005250019.1:p.Val682Leu
XM_005249963.4:c.2017G>C	XP_005250020.1:p.Val673Leu
XM_005249964.4:c.1891G>C	XP_005250021.1:p.Val631Leu
XM_011515883.2:c.2059G>C	XP_011514185.1:p.Val687Leu
XM_011515884.2:c.2035G>C	XP_011514186.1:p.Val679Leu
XM_011515885.2:c.2032G>C	XP_011514187.1:p.Val678Leu
XM_011515886.2:c.2011G>C	XP_011514188.1:p.Val671Leu
XM_011515887.3:c.2008G>C	XP_011514189.1:p.Val670Leu
XM_011515888.2:c.2008G>C	XP_011514190.1:p.Val670Leu
XM_011515889.2:c.1969G>C	XP_011514191.1:p.Val657Leu
XM_011515890.2:c.1942G>C	XP_011514192.1:p.Val648Leu
XM_011515891.3:c.1936G>C	XP_011514193.1:p.Val646Leu
XM_011515892.2:c.1933G>C	XP_011514194.1:p.Val645Leu
XM_011515893.2:c.1927G>C	XP_011514195.1:p.Val643Leu
XM_011515894.2:c.1918G>C	XP_011514196.1:p.Val640Leu
XM_011515895.2:c.1915G>C	XP_011514197.1:p.Val639Leu
XM_011515896.2:c.1801G>C	XP_011514198.1:p.Val601Leu
XM_011515897.2:c.1708G>C	XP_011514199.1:p.Val570Leu
XM_011515898.2:c.1708G>C	XP_011514200.1:p.Val570Leu
XM_017011817.2:c.2059G>C	XP_016867306.1:p.Val687Leu
XM_017011818.1:c.1996G>C	XP_016867307.1:p.Val666Leu
XM_017011819.1:c.1918G>C	XP_016867308.1:p.Val640Leu
XM_017011820.2:c.1891G>C	XP_016867309.1:p.Val631Leu
XM_017011821.1:c.1693G>C	XP_016867310.1:p.Val565Leu
XM_024446680.1:c.1921G>C	XP_024302448.1:p.Val641Leu
XR_001744581.1:n.4409G>C
XR_002956413.1:n.5065G>C
XR_002956414.1:n.5525G>C
NM_001203247.2:c.2020G>C	NP_001190176.1:p.Val674Leu
NM_001203248.2:c.1993G>C	NP_001190177.1:p.Val665Leu
NM_001203249.2:c.1867G>C	NP_001190178.1:p.Val623Leu
NM_004456.5:c.2035G>C MANE Select	NP_004447.2:p.Val679Leu
NM_152998.3:c.1903G>C	NP_694543.1:p.Val635Leu