Canonical Allele Identifier: CA4547834

Gene: EZH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.148815031A>G , CM000669.2:g.148815031A>G	GRCh38
NC_000007.13:g.148512123A>G , CM000669.1:g.148512123A>G	GRCh37
NC_000007.12:g.148143056A>G	NCBI36
NG_032043.1:g.74319T>C , LRG_531:g.74319T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682263.1:n.2679T>C
ENST00000682317.1:c.*617T>C	ENSP00000508286.1:n.*617T>C
ENST00000683292.1:c.*451T>C	ENSP00000507503.1:n.*451T>C
ENST00000683293.1:n.2498T>C
ENST00000683744.1:c.*617T>C	ENSP00000506949.1:n.*617T>C
ENST00000684300.1:c.*617T>C	ENSP00000508407.1:n.*617T>C
ENST00000684400.1:n.1670T>C
ENST00000684436.1:n.1871T>C
ENST00000684510.1:n.1933T>C
ENST00000320356.7:c.1555T>C MANE Select	ENSP00000320147.2:p.Ser519Pro
ENST00000320356.6:c.1555T>C	ENSP00000320147.2:p.Ser519Pro
ENST00000350995.6:c.1423T>C	ENSP00000223193.2:p.Ser475Pro
ENST00000460911.5:c.1540T>C	ENSP00000419711.1:p.Ser514Pro
ENST00000476773.5:c.1504+475T>C	ENSP00000419050.1:n.1504+475T>C
ENST00000478654.5:c.1504+475T>C	ENSP00000417062.1:n.1504+475T>C
ENST00000483967.5:c.1513T>C	ENSP00000419856.1:p.Ser505Pro
ENST00000492143.5:c.*1545T>C	ENSP00000417377.1:n.*1545T>C
NM_001203247.1:c.1540T>C	NP_001190176.1:p.Ser514Pro
NM_001203248.1:c.1513T>C	NP_001190177.1:p.Ser505Pro
NM_001203249.1:c.1504+475T>C	NP_001190178.1:n.1504+475T>C
NM_004456.4:c.1555T>C , LRG_531t1:c.1555T>C	NP_004447.2:p.Ser519Pro
NM_152998.2:c.1423T>C	NP_694543.1:p.Ser475Pro
XM_005249962.3:c.1564T>C	XP_005250019.1:p.Ser522Pro
XM_005249963.3:c.1537T>C	XP_005250020.1:p.Ser513Pro
XM_005249964.3:c.1528+475T>C	XP_005250021.1:n.1528+475T>C
XM_011515883.1:c.1579T>C	XP_011514185.1:p.Ser527Pro
XM_011515884.1:c.1555T>C	XP_011514186.1:p.Ser519Pro
XM_011515885.1:c.1552T>C	XP_011514187.1:p.Ser518Pro
XM_011515886.1:c.1531T>C	XP_011514188.1:p.Ser511Pro
XM_011515887.1:c.1528T>C	XP_011514189.1:p.Ser510Pro
XM_011515888.1:c.1528T>C	XP_011514190.1:p.Ser510Pro
XM_011515889.1:c.1489T>C	XP_011514191.1:p.Ser497Pro
XM_011515890.1:c.1462T>C	XP_011514192.1:p.Ser488Pro
XM_011515891.1:c.1456T>C	XP_011514193.1:p.Ser486Pro
XM_011515892.1:c.1570+475T>C	XP_011514194.1:n.1570+475T>C
XM_011515893.1:c.1447T>C	XP_011514195.1:p.Ser483Pro
XM_011515894.1:c.1438T>C	XP_011514196.1:p.Ser480Pro
XM_011515895.1:c.1435T>C	XP_011514197.1:p.Ser479Pro
XM_011515896.1:c.1438+475T>C	XP_011514198.1:n.1438+475T>C
XM_011515897.1:c.1228T>C	XP_011514199.1:p.Ser410Pro
XM_011515898.1:c.1228T>C	XP_011514200.1:p.Ser410Pro
XM_011515900.1:c.*15T>C	XP_011514202.1:n.*15T>C
XM_011515901.1:c.*6+475T>C	XP_011514203.1:n.*6+475T>C
XR_928101.1:n.516-8920A>G
XR_928102.1:n.723-8920A>G
XM_005249962.4:c.1564T>C	XP_005250019.1:p.Ser522Pro
XM_005249963.4:c.1537T>C	XP_005250020.1:p.Ser513Pro
XM_005249964.4:c.1528+475T>C	XP_005250021.1:n.1528+475T>C
XM_011515883.2:c.1579T>C	XP_011514185.1:p.Ser527Pro
XM_011515884.2:c.1555T>C	XP_011514186.1:p.Ser519Pro
XM_011515885.2:c.1552T>C	XP_011514187.1:p.Ser518Pro
XM_011515886.2:c.1531T>C	XP_011514188.1:p.Ser511Pro
XM_011515887.3:c.1528T>C	XP_011514189.1:p.Ser510Pro
XM_011515888.2:c.1528T>C	XP_011514190.1:p.Ser510Pro
XM_011515889.2:c.1489T>C	XP_011514191.1:p.Ser497Pro
XM_011515890.2:c.1462T>C	XP_011514192.1:p.Ser488Pro
XM_011515891.3:c.1456T>C	XP_011514193.1:p.Ser486Pro
XM_011515892.2:c.1570+475T>C	XP_011514194.1:n.1570+475T>C
XM_011515893.2:c.1447T>C	XP_011514195.1:p.Ser483Pro
XM_011515894.2:c.1438T>C	XP_011514196.1:p.Ser480Pro
XM_011515895.2:c.1435T>C	XP_011514197.1:p.Ser479Pro
XM_011515896.2:c.1438+475T>C	XP_011514198.1:n.1438+475T>C
XM_011515897.2:c.1228T>C	XP_011514199.1:p.Ser410Pro
XM_011515898.2:c.1228T>C	XP_011514200.1:p.Ser410Pro
XM_011515901.3:c.*6+475T>C	XP_011514203.1:n.*6+475T>C
XM_017011817.2:c.1579T>C	XP_016867306.1:p.Ser527Pro
XM_017011818.1:c.1516T>C	XP_016867307.1:p.Ser506Pro
XM_017011819.1:c.1555+475T>C	XP_016867308.1:n.1555+475T>C
XM_017011820.2:c.1411T>C	XP_016867309.1:p.Ser471Pro
XM_017011821.1:c.1213T>C	XP_016867310.1:p.Ser405Pro
XM_024446680.1:c.1441T>C	XP_024302448.1:p.Ser481Pro
XR_001744581.1:n.3929T>C
XR_002956413.1:n.4585T>C
XR_002956414.1:n.5045T>C
NM_001203247.2:c.1540T>C	NP_001190176.1:p.Ser514Pro
NM_001203248.2:c.1513T>C	NP_001190177.1:p.Ser505Pro
NM_001203249.2:c.1504+475T>C	NP_001190178.1:n.1504+475T>C
NM_004456.5:c.1555T>C MANE Select	NP_004447.2:p.Ser519Pro
NM_152998.3:c.1423T>C	NP_694543.1:p.Ser475Pro