Canonical Allele Identifier: CA369711732

Gene: EZH2

Linked Data

• gnomAD v4: 7-148807648-A-G
• MyVariant Identifiers: chr7:g.148504740A>G (hg19) ; chr7:g.148807648A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.148807648A>G , CM000669.2:g.148807648A>G	GRCh38
NC_000007.13:g.148504740A>G , CM000669.1:g.148504740A>G	GRCh37
NC_000007.12:g.148135673A>G	NCBI36
NG_032043.1:g.81702T>C , LRG_531:g.81702T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682263.1:n.4154T>C
ENST00000682317.1:c.*1316T>C	ENSP00000508286.1:n.*1316T>C
ENST00000683292.1:c.*1150T>C	ENSP00000507503.1:n.*1150T>C
ENST00000683293.1:n.3973T>C
ENST00000683744.1:c.*1316T>C	ENSP00000506949.1:n.*1316T>C
ENST00000684300.1:c.*1316T>C	ENSP00000508407.1:n.*1316T>C
ENST00000684400.1:n.4241T>C
ENST00000684436.1:n.2570T>C
ENST00000684510.1:n.2632T>C
ENST00000320356.7:c.2254T>C MANE Select	ENSP00000320147.2:p.Ter752Arg
ENST00000320356.6:c.2254T>C	ENSP00000320147.2:p.Ter752Arg
ENST00000350995.6:c.2122T>C	ENSP00000223193.2:p.Ter708Arg
ENST00000460911.5:c.2239T>C	ENSP00000419711.1:p.Ter747Arg
ENST00000476773.5:c.2086T>C	ENSP00000419050.1:p.Ter696Arg
ENST00000478654.5:c.2086T>C	ENSP00000417062.1:p.Ter696Arg
ENST00000483967.5:c.2212T>C	ENSP00000419856.1:p.Ter738Arg
ENST00000492143.5:c.*2244T>C	ENSP00000417377.1:n.*2244T>C
NM_001203247.1:c.2239T>C	NP_001190176.1:p.Ter747Arg
NM_001203248.1:c.2212T>C	NP_001190177.1:p.Ter738Arg
NM_001203249.1:c.2086T>C	NP_001190178.1:p.Ter696Arg
NM_004456.4:c.2254T>C , LRG_531t1:c.2254T>C	NP_004447.2:p.Ter752Arg
NM_152998.2:c.2122T>C	NP_694543.1:p.Ter708Arg
XM_005249962.3:c.2263T>C	XP_005250019.1:p.Ter755Arg
XM_005249963.3:c.2236T>C	XP_005250020.1:p.Ter746Arg
XM_005249964.3:c.2110T>C	XP_005250021.1:p.Ter704Arg
XM_011515883.1:c.2278T>C	XP_011514185.1:p.Ter760Arg
XM_011515884.1:c.2254T>C	XP_011514186.1:p.Ter752Arg
XM_011515885.1:c.2251T>C	XP_011514187.1:p.Ter751Arg
XM_011515886.1:c.2230T>C	XP_011514188.1:p.Ter744Arg
XM_011515887.1:c.2227T>C	XP_011514189.1:p.Ter743Arg
XM_011515888.1:c.2227T>C	XP_011514190.1:p.Ter743Arg
XM_011515889.1:c.2188T>C	XP_011514191.1:p.Ter730Arg
XM_011515890.1:c.2161T>C	XP_011514192.1:p.Ter721Arg
XM_011515891.1:c.2155T>C	XP_011514193.1:p.Ter719Arg
XM_011515892.1:c.2152T>C	XP_011514194.1:p.Ter718Arg
XM_011515893.1:c.2146T>C	XP_011514195.1:p.Ter716Arg
XM_011515894.1:c.2137T>C	XP_011514196.1:p.Ter713Arg
XM_011515895.1:c.2134T>C	XP_011514197.1:p.Ter712Arg
XM_011515896.1:c.2020T>C	XP_011514198.1:p.Ter674Arg
XM_011515897.1:c.1927T>C	XP_011514199.1:p.Ter643Arg
XM_011515898.1:c.1927T>C	XP_011514200.1:p.Ter643Arg
XR_928101.1:n.515+2563A>G
XR_928102.1:n.722+2563A>G
XM_005249962.4:c.2263T>C	XP_005250019.1:p.Ter755Arg
XM_005249963.4:c.2236T>C	XP_005250020.1:p.Ter746Arg
XM_005249964.4:c.2110T>C	XP_005250021.1:p.Ter704Arg
XM_011515883.2:c.2278T>C	XP_011514185.1:p.Ter760Arg
XM_011515884.2:c.2254T>C	XP_011514186.1:p.Ter752Arg
XM_011515885.2:c.2251T>C	XP_011514187.1:p.Ter751Arg
XM_011515886.2:c.2230T>C	XP_011514188.1:p.Ter744Arg
XM_011515887.3:c.2227T>C	XP_011514189.1:p.Ter743Arg
XM_011515888.2:c.2227T>C	XP_011514190.1:p.Ter743Arg
XM_011515889.2:c.2188T>C	XP_011514191.1:p.Ter730Arg
XM_011515890.2:c.2161T>C	XP_011514192.1:p.Ter721Arg
XM_011515891.3:c.2155T>C	XP_011514193.1:p.Ter719Arg
XM_011515892.2:c.2152T>C	XP_011514194.1:p.Ter718Arg
XM_011515893.2:c.2146T>C	XP_011514195.1:p.Ter716Arg
XM_011515894.2:c.2137T>C	XP_011514196.1:p.Ter713Arg
XM_011515895.2:c.2134T>C	XP_011514197.1:p.Ter712Arg
XM_011515896.2:c.2020T>C	XP_011514198.1:p.Ter674Arg
XM_011515897.2:c.1927T>C	XP_011514199.1:p.Ter643Arg
XM_011515898.2:c.1927T>C	XP_011514200.1:p.Ter643Arg
XM_017011817.2:c.2278T>C	XP_016867306.1:p.Ter760Arg
XM_017011818.1:c.2215T>C	XP_016867307.1:p.Ter739Arg
XM_017011819.1:c.2137T>C	XP_016867308.1:p.Ter713Arg
XM_017011820.2:c.2110T>C	XP_016867309.1:p.Ter704Arg
XM_017011821.1:c.1912T>C	XP_016867310.1:p.Ter638Arg
XM_024446680.1:c.2140T>C	XP_024302448.1:p.Ter714Arg
XR_001744581.1:n.4628T>C
XR_002956413.1:n.5284T>C
XR_002956414.1:n.5744T>C
NM_001203247.2:c.2239T>C	NP_001190176.1:p.Ter747Arg
NM_001203248.2:c.2212T>C	NP_001190177.1:p.Ter738Arg
NM_001203249.2:c.2086T>C	NP_001190178.1:p.Ter696Arg
NM_004456.5:c.2254T>C MANE Select	NP_004447.2:p.Ter752Arg
NM_152998.3:c.2122T>C	NP_694543.1:p.Ter708Arg