Canonical Allele Identifier: CA369711774

Gene: EZH2

Linked Data

• MyVariant Identifiers: chr7:g.148504757C>G (hg19) ; chr7:g.148807665C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.148807665C>G , CM000669.2:g.148807665C>G	GRCh38
NC_000007.13:g.148504757C>G , CM000669.1:g.148504757C>G	GRCh37
NC_000007.12:g.148135690C>G	NCBI36
NG_032043.1:g.81685G>C , LRG_531:g.81685G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682263.1:n.4137G>C
ENST00000682317.1:c.*1299G>C	ENSP00000508286.1:n.*1299G>C
ENST00000683292.1:c.*1133G>C	ENSP00000507503.1:n.*1133G>C
ENST00000683293.1:n.3956G>C
ENST00000683744.1:c.*1299G>C	ENSP00000506949.1:n.*1299G>C
ENST00000684300.1:c.*1299G>C	ENSP00000508407.1:n.*1299G>C
ENST00000684400.1:n.4224G>C
ENST00000684436.1:n.2553G>C
ENST00000684510.1:n.2615G>C
ENST00000320356.7:c.2237G>C MANE Select	ENSP00000320147.2:p.Arg746Thr
ENST00000320356.6:c.2237G>C	ENSP00000320147.2:p.Arg746Thr
ENST00000350995.6:c.2105G>C	ENSP00000223193.2:p.Arg702Thr
ENST00000460911.5:c.2222G>C	ENSP00000419711.1:p.Arg741Thr
ENST00000476773.5:c.2069G>C	ENSP00000419050.1:p.Arg690Thr
ENST00000478654.5:c.2069G>C	ENSP00000417062.1:p.Arg690Thr
ENST00000483967.5:c.2195G>C	ENSP00000419856.1:p.Arg732Thr
ENST00000492143.5:c.*2227G>C	ENSP00000417377.1:n.*2227G>C
NM_001203247.1:c.2222G>C	NP_001190176.1:p.Arg741Thr
NM_001203248.1:c.2195G>C	NP_001190177.1:p.Arg732Thr
NM_001203249.1:c.2069G>C	NP_001190178.1:p.Arg690Thr
NM_004456.4:c.2237G>C , LRG_531t1:c.2237G>C	NP_004447.2:p.Arg746Thr
NM_152998.2:c.2105G>C	NP_694543.1:p.Arg702Thr
XM_005249962.3:c.2246G>C	XP_005250019.1:p.Arg749Thr
XM_005249963.3:c.2219G>C	XP_005250020.1:p.Arg740Thr
XM_005249964.3:c.2093G>C	XP_005250021.1:p.Arg698Thr
XM_011515883.1:c.2261G>C	XP_011514185.1:p.Arg754Thr
XM_011515884.1:c.2237G>C	XP_011514186.1:p.Arg746Thr
XM_011515885.1:c.2234G>C	XP_011514187.1:p.Arg745Thr
XM_011515886.1:c.2213G>C	XP_011514188.1:p.Arg738Thr
XM_011515887.1:c.2210G>C	XP_011514189.1:p.Arg737Thr
XM_011515888.1:c.2210G>C	XP_011514190.1:p.Arg737Thr
XM_011515889.1:c.2171G>C	XP_011514191.1:p.Arg724Thr
XM_011515890.1:c.2144G>C	XP_011514192.1:p.Arg715Thr
XM_011515891.1:c.2138G>C	XP_011514193.1:p.Arg713Thr
XM_011515892.1:c.2135G>C	XP_011514194.1:p.Arg712Thr
XM_011515893.1:c.2129G>C	XP_011514195.1:p.Arg710Thr
XM_011515894.1:c.2120G>C	XP_011514196.1:p.Arg707Thr
XM_011515895.1:c.2117G>C	XP_011514197.1:p.Arg706Thr
XM_011515896.1:c.2003G>C	XP_011514198.1:p.Arg668Thr
XM_011515897.1:c.1910G>C	XP_011514199.1:p.Arg637Thr
XM_011515898.1:c.1910G>C	XP_011514200.1:p.Arg637Thr
XR_928101.1:n.515+2580C>G
XR_928102.1:n.722+2580C>G
XM_005249962.4:c.2246G>C	XP_005250019.1:p.Arg749Thr
XM_005249963.4:c.2219G>C	XP_005250020.1:p.Arg740Thr
XM_005249964.4:c.2093G>C	XP_005250021.1:p.Arg698Thr
XM_011515883.2:c.2261G>C	XP_011514185.1:p.Arg754Thr
XM_011515884.2:c.2237G>C	XP_011514186.1:p.Arg746Thr
XM_011515885.2:c.2234G>C	XP_011514187.1:p.Arg745Thr
XM_011515886.2:c.2213G>C	XP_011514188.1:p.Arg738Thr
XM_011515887.3:c.2210G>C	XP_011514189.1:p.Arg737Thr
XM_011515888.2:c.2210G>C	XP_011514190.1:p.Arg737Thr
XM_011515889.2:c.2171G>C	XP_011514191.1:p.Arg724Thr
XM_011515890.2:c.2144G>C	XP_011514192.1:p.Arg715Thr
XM_011515891.3:c.2138G>C	XP_011514193.1:p.Arg713Thr
XM_011515892.2:c.2135G>C	XP_011514194.1:p.Arg712Thr
XM_011515893.2:c.2129G>C	XP_011514195.1:p.Arg710Thr
XM_011515894.2:c.2120G>C	XP_011514196.1:p.Arg707Thr
XM_011515895.2:c.2117G>C	XP_011514197.1:p.Arg706Thr
XM_011515896.2:c.2003G>C	XP_011514198.1:p.Arg668Thr
XM_011515897.2:c.1910G>C	XP_011514199.1:p.Arg637Thr
XM_011515898.2:c.1910G>C	XP_011514200.1:p.Arg637Thr
XM_017011817.2:c.2261G>C	XP_016867306.1:p.Arg754Thr
XM_017011818.1:c.2198G>C	XP_016867307.1:p.Arg733Thr
XM_017011819.1:c.2120G>C	XP_016867308.1:p.Arg707Thr
XM_017011820.2:c.2093G>C	XP_016867309.1:p.Arg698Thr
XM_017011821.1:c.1895G>C	XP_016867310.1:p.Arg632Thr
XM_024446680.1:c.2123G>C	XP_024302448.1:p.Arg708Thr
XR_001744581.1:n.4611G>C
XR_002956413.1:n.5267G>C
XR_002956414.1:n.5727G>C
NM_001203247.2:c.2222G>C	NP_001190176.1:p.Arg741Thr
NM_001203248.2:c.2195G>C	NP_001190177.1:p.Arg732Thr
NM_001203249.2:c.2069G>C	NP_001190178.1:p.Arg690Thr
NM_004456.5:c.2237G>C MANE Select	NP_004447.2:p.Arg746Thr
NM_152998.3:c.2105G>C	NP_694543.1:p.Arg702Thr