Canonical Allele Identifier: CA168907568

Gene: EZH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.148809317A>G , CM000669.2:g.148809317A>G	GRCh38
NC_000007.13:g.148506409A>G , CM000669.1:g.148506409A>G	GRCh37
NC_000007.12:g.148137342A>G	NCBI36
NG_032043.1:g.80033T>C , LRG_531:g.80033T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682263.1:n.4003T>C
ENST00000682317.1:c.*1165T>C	ENSP00000508286.1:n.*1165T>C
ENST00000683292.1:c.*999T>C	ENSP00000507503.1:n.*999T>C
ENST00000683293.1:n.3822T>C
ENST00000683744.1:c.*1165T>C	ENSP00000506949.1:n.*1165T>C
ENST00000684300.1:c.*1165T>C	ENSP00000508407.1:n.*1165T>C
ENST00000684400.1:n.3936T>C
ENST00000684436.1:n.2419T>C
ENST00000684510.1:n.2481T>C
ENST00000320356.7:c.2103T>C MANE Select	ENSP00000320147.2:p.Tyr701=
ENST00000320356.6:c.2103T>C	ENSP00000320147.2:p.Tyr701=
ENST00000350995.6:c.1971T>C	ENSP00000223193.2:p.Tyr657=
ENST00000460911.5:c.2088T>C	ENSP00000419711.1:p.Tyr696=
ENST00000476773.5:c.1935T>C	ENSP00000419050.1:p.Tyr645=
ENST00000478654.5:c.1935T>C	ENSP00000417062.1:p.Tyr645=
ENST00000483967.5:c.2061T>C	ENSP00000419856.1:p.Tyr687=
ENST00000492143.5:c.*2093T>C	ENSP00000417377.1:n.*2093T>C
NM_001203247.1:c.2088T>C	NP_001190176.1:p.Tyr696=
NM_001203248.1:c.2061T>C	NP_001190177.1:p.Tyr687=
NM_001203249.1:c.1935T>C	NP_001190178.1:p.Tyr645=
NM_004456.4:c.2103T>C , LRG_531t1:c.2103T>C	NP_004447.2:p.Tyr701=
NM_152998.2:c.1971T>C	NP_694543.1:p.Tyr657=
XM_005249962.3:c.2112T>C	XP_005250019.1:p.Tyr704=
XM_005249963.3:c.2085T>C	XP_005250020.1:p.Tyr695=
XM_005249964.3:c.1959T>C	XP_005250021.1:p.Tyr653=
XM_011515883.1:c.2127T>C	XP_011514185.1:p.Tyr709=
XM_011515884.1:c.2103T>C	XP_011514186.1:p.Tyr701=
XM_011515885.1:c.2100T>C	XP_011514187.1:p.Tyr700=
XM_011515886.1:c.2079T>C	XP_011514188.1:p.Tyr693=
XM_011515887.1:c.2076T>C	XP_011514189.1:p.Tyr692=
XM_011515888.1:c.2076T>C	XP_011514190.1:p.Tyr692=
XM_011515889.1:c.2037T>C	XP_011514191.1:p.Tyr679=
XM_011515890.1:c.2010T>C	XP_011514192.1:p.Tyr670=
XM_011515891.1:c.2004T>C	XP_011514193.1:p.Tyr668=
XM_011515892.1:c.2001T>C	XP_011514194.1:p.Tyr667=
XM_011515893.1:c.1995T>C	XP_011514195.1:p.Tyr665=
XM_011515894.1:c.1986T>C	XP_011514196.1:p.Tyr662=
XM_011515895.1:c.1983T>C	XP_011514197.1:p.Tyr661=
XM_011515896.1:c.1869T>C	XP_011514198.1:p.Tyr623=
XM_011515897.1:c.1776T>C	XP_011514199.1:p.Tyr592=
XM_011515898.1:c.1776T>C	XP_011514200.1:p.Tyr592=
XR_928101.1:n.515+4232A>G
XR_928102.1:n.722+4232A>G
XM_005249962.4:c.2112T>C	XP_005250019.1:p.Tyr704=
XM_005249963.4:c.2085T>C	XP_005250020.1:p.Tyr695=
XM_005249964.4:c.1959T>C	XP_005250021.1:p.Tyr653=
XM_011515883.2:c.2127T>C	XP_011514185.1:p.Tyr709=
XM_011515884.2:c.2103T>C	XP_011514186.1:p.Tyr701=
XM_011515885.2:c.2100T>C	XP_011514187.1:p.Tyr700=
XM_011515886.2:c.2079T>C	XP_011514188.1:p.Tyr693=
XM_011515887.3:c.2076T>C	XP_011514189.1:p.Tyr692=
XM_011515888.2:c.2076T>C	XP_011514190.1:p.Tyr692=
XM_011515889.2:c.2037T>C	XP_011514191.1:p.Tyr679=
XM_011515890.2:c.2010T>C	XP_011514192.1:p.Tyr670=
XM_011515891.3:c.2004T>C	XP_011514193.1:p.Tyr668=
XM_011515892.2:c.2001T>C	XP_011514194.1:p.Tyr667=
XM_011515893.2:c.1995T>C	XP_011514195.1:p.Tyr665=
XM_011515894.2:c.1986T>C	XP_011514196.1:p.Tyr662=
XM_011515895.2:c.1983T>C	XP_011514197.1:p.Tyr661=
XM_011515896.2:c.1869T>C	XP_011514198.1:p.Tyr623=
XM_011515897.2:c.1776T>C	XP_011514199.1:p.Tyr592=
XM_011515898.2:c.1776T>C	XP_011514200.1:p.Tyr592=
XM_017011817.2:c.2127T>C	XP_016867306.1:p.Tyr709=
XM_017011818.1:c.2064T>C	XP_016867307.1:p.Tyr688=
XM_017011819.1:c.1986T>C	XP_016867308.1:p.Tyr662=
XM_017011820.2:c.1959T>C	XP_016867309.1:p.Tyr653=
XM_017011821.1:c.1761T>C	XP_016867310.1:p.Tyr587=
XM_024446680.1:c.1989T>C	XP_024302448.1:p.Tyr663=
XR_001744581.1:n.4477T>C
XR_002956413.1:n.5133T>C
XR_002956414.1:n.5593T>C
NM_001203247.2:c.2088T>C	NP_001190176.1:p.Tyr696=
NM_001203248.2:c.2061T>C	NP_001190177.1:p.Tyr687=
NM_001203249.2:c.1935T>C	NP_001190178.1:p.Tyr645=
NM_004456.5:c.2103T>C MANE Select	NP_004447.2:p.Tyr701=
NM_152998.3:c.1971T>C	NP_694543.1:p.Tyr657=