Canonical Allele Identifier: CA369711838

Gene: EZH2

Linked Data

• dbSNP Id: rs2129465361
• MyVariant Identifiers: chr7:g.148504788C>T (hg19) ; chr7:g.148807696C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.148807696C>T , CM000669.2:g.148807696C>T	GRCh38
NC_000007.13:g.148504788C>T , CM000669.1:g.148504788C>T	GRCh37
NC_000007.12:g.148135721C>T	NCBI36
NG_032043.1:g.81654G>A , LRG_531:g.81654G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682263.1:n.4106G>A
ENST00000682317.1:c.*1268G>A	ENSP00000508286.1:n.*1268G>A
ENST00000683292.1:c.*1102G>A	ENSP00000507503.1:n.*1102G>A
ENST00000683293.1:n.3925G>A
ENST00000683744.1:c.*1268G>A	ENSP00000506949.1:n.*1268G>A
ENST00000684300.1:c.*1268G>A	ENSP00000508407.1:n.*1268G>A
ENST00000684400.1:n.4193G>A
ENST00000684436.1:n.2522G>A
ENST00000684510.1:n.2584G>A
ENST00000320356.7:c.2206G>A MANE Select	ENSP00000320147.2:p.Ala736Thr
ENST00000320356.6:c.2206G>A	ENSP00000320147.2:p.Ala736Thr
ENST00000350995.6:c.2074G>A	ENSP00000223193.2:p.Ala692Thr
ENST00000460911.5:c.2191G>A	ENSP00000419711.1:p.Ala731Thr
ENST00000476773.5:c.2038G>A	ENSP00000419050.1:p.Ala680Thr
ENST00000478654.5:c.2038G>A	ENSP00000417062.1:p.Ala680Thr
ENST00000483967.5:c.2164G>A	ENSP00000419856.1:p.Ala722Thr
ENST00000492143.5:c.*2196G>A	ENSP00000417377.1:n.*2196G>A
NM_001203247.1:c.2191G>A	NP_001190176.1:p.Ala731Thr
NM_001203248.1:c.2164G>A	NP_001190177.1:p.Ala722Thr
NM_001203249.1:c.2038G>A	NP_001190178.1:p.Ala680Thr
NM_004456.4:c.2206G>A , LRG_531t1:c.2206G>A	NP_004447.2:p.Ala736Thr
NM_152998.2:c.2074G>A	NP_694543.1:p.Ala692Thr
XM_005249962.3:c.2215G>A	XP_005250019.1:p.Ala739Thr
XM_005249963.3:c.2188G>A	XP_005250020.1:p.Ala730Thr
XM_005249964.3:c.2062G>A	XP_005250021.1:p.Ala688Thr
XM_011515883.1:c.2230G>A	XP_011514185.1:p.Ala744Thr
XM_011515884.1:c.2206G>A	XP_011514186.1:p.Ala736Thr
XM_011515885.1:c.2203G>A	XP_011514187.1:p.Ala735Thr
XM_011515886.1:c.2182G>A	XP_011514188.1:p.Ala728Thr
XM_011515887.1:c.2179G>A	XP_011514189.1:p.Ala727Thr
XM_011515888.1:c.2179G>A	XP_011514190.1:p.Ala727Thr
XM_011515889.1:c.2140G>A	XP_011514191.1:p.Ala714Thr
XM_011515890.1:c.2113G>A	XP_011514192.1:p.Ala705Thr
XM_011515891.1:c.2107G>A	XP_011514193.1:p.Ala703Thr
XM_011515892.1:c.2104G>A	XP_011514194.1:p.Ala702Thr
XM_011515893.1:c.2098G>A	XP_011514195.1:p.Ala700Thr
XM_011515894.1:c.2089G>A	XP_011514196.1:p.Ala697Thr
XM_011515895.1:c.2086G>A	XP_011514197.1:p.Ala696Thr
XM_011515896.1:c.1972G>A	XP_011514198.1:p.Ala658Thr
XM_011515897.1:c.1879G>A	XP_011514199.1:p.Ala627Thr
XM_011515898.1:c.1879G>A	XP_011514200.1:p.Ala627Thr
XR_928101.1:n.515+2611C>T
XR_928102.1:n.722+2611C>T
XM_005249962.4:c.2215G>A	XP_005250019.1:p.Ala739Thr
XM_005249963.4:c.2188G>A	XP_005250020.1:p.Ala730Thr
XM_005249964.4:c.2062G>A	XP_005250021.1:p.Ala688Thr
XM_011515883.2:c.2230G>A	XP_011514185.1:p.Ala744Thr
XM_011515884.2:c.2206G>A	XP_011514186.1:p.Ala736Thr
XM_011515885.2:c.2203G>A	XP_011514187.1:p.Ala735Thr
XM_011515886.2:c.2182G>A	XP_011514188.1:p.Ala728Thr
XM_011515887.3:c.2179G>A	XP_011514189.1:p.Ala727Thr
XM_011515888.2:c.2179G>A	XP_011514190.1:p.Ala727Thr
XM_011515889.2:c.2140G>A	XP_011514191.1:p.Ala714Thr
XM_011515890.2:c.2113G>A	XP_011514192.1:p.Ala705Thr
XM_011515891.3:c.2107G>A	XP_011514193.1:p.Ala703Thr
XM_011515892.2:c.2104G>A	XP_011514194.1:p.Ala702Thr
XM_011515893.2:c.2098G>A	XP_011514195.1:p.Ala700Thr
XM_011515894.2:c.2089G>A	XP_011514196.1:p.Ala697Thr
XM_011515895.2:c.2086G>A	XP_011514197.1:p.Ala696Thr
XM_011515896.2:c.1972G>A	XP_011514198.1:p.Ala658Thr
XM_011515897.2:c.1879G>A	XP_011514199.1:p.Ala627Thr
XM_011515898.2:c.1879G>A	XP_011514200.1:p.Ala627Thr
XM_017011817.2:c.2230G>A	XP_016867306.1:p.Ala744Thr
XM_017011818.1:c.2167G>A	XP_016867307.1:p.Ala723Thr
XM_017011819.1:c.2089G>A	XP_016867308.1:p.Ala697Thr
XM_017011820.2:c.2062G>A	XP_016867309.1:p.Ala688Thr
XM_017011821.1:c.1864G>A	XP_016867310.1:p.Ala622Thr
XM_024446680.1:c.2092G>A	XP_024302448.1:p.Ala698Thr
XR_001744581.1:n.4580G>A
XR_002956413.1:n.5236G>A
XR_002956414.1:n.5696G>A
NM_001203247.2:c.2191G>A	NP_001190176.1:p.Ala731Thr
NM_001203248.2:c.2164G>A	NP_001190177.1:p.Ala722Thr
NM_001203249.2:c.2038G>A	NP_001190178.1:p.Ala680Thr
NM_004456.5:c.2206G>A MANE Select	NP_004447.2:p.Ala736Thr
NM_152998.3:c.2074G>A	NP_694543.1:p.Ala692Thr