Canonical Allele Identifier: CA369711794

Gene: EZH2

Linked Data

• gnomAD v4: 7-148807675-C-A
• MyVariant Identifiers: chr7:g.148504767C>A (hg19) ; chr7:g.148807675C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.148807675C>A , CM000669.2:g.148807675C>A	GRCh38
NC_000007.13:g.148504767C>A , CM000669.1:g.148504767C>A	GRCh37
NC_000007.12:g.148135700C>A	NCBI36
NG_032043.1:g.81675G>T , LRG_531:g.81675G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682263.1:n.4127G>T
ENST00000682317.1:c.*1289G>T	ENSP00000508286.1:n.*1289G>T
ENST00000683292.1:c.*1123G>T	ENSP00000507503.1:n.*1123G>T
ENST00000683293.1:n.3946G>T
ENST00000683744.1:c.*1289G>T	ENSP00000506949.1:n.*1289G>T
ENST00000684300.1:c.*1289G>T	ENSP00000508407.1:n.*1289G>T
ENST00000684400.1:n.4214G>T
ENST00000684436.1:n.2543G>T
ENST00000684510.1:n.2605G>T
ENST00000320356.7:c.2227G>T MANE Select	ENSP00000320147.2:p.Gly743Cys
ENST00000320356.6:c.2227G>T	ENSP00000320147.2:p.Gly743Cys
ENST00000350995.6:c.2095G>T	ENSP00000223193.2:p.Gly699Cys
ENST00000460911.5:c.2212G>T	ENSP00000419711.1:p.Gly738Cys
ENST00000476773.5:c.2059G>T	ENSP00000419050.1:p.Gly687Cys
ENST00000478654.5:c.2059G>T	ENSP00000417062.1:p.Gly687Cys
ENST00000483967.5:c.2185G>T	ENSP00000419856.1:p.Gly729Cys
ENST00000492143.5:c.*2217G>T	ENSP00000417377.1:n.*2217G>T
NM_001203247.1:c.2212G>T	NP_001190176.1:p.Gly738Cys
NM_001203248.1:c.2185G>T	NP_001190177.1:p.Gly729Cys
NM_001203249.1:c.2059G>T	NP_001190178.1:p.Gly687Cys
NM_004456.4:c.2227G>T , LRG_531t1:c.2227G>T	NP_004447.2:p.Gly743Cys
NM_152998.2:c.2095G>T	NP_694543.1:p.Gly699Cys
XM_005249962.3:c.2236G>T	XP_005250019.1:p.Gly746Cys
XM_005249963.3:c.2209G>T	XP_005250020.1:p.Gly737Cys
XM_005249964.3:c.2083G>T	XP_005250021.1:p.Gly695Cys
XM_011515883.1:c.2251G>T	XP_011514185.1:p.Gly751Cys
XM_011515884.1:c.2227G>T	XP_011514186.1:p.Gly743Cys
XM_011515885.1:c.2224G>T	XP_011514187.1:p.Gly742Cys
XM_011515886.1:c.2203G>T	XP_011514188.1:p.Gly735Cys
XM_011515887.1:c.2200G>T	XP_011514189.1:p.Gly734Cys
XM_011515888.1:c.2200G>T	XP_011514190.1:p.Gly734Cys
XM_011515889.1:c.2161G>T	XP_011514191.1:p.Gly721Cys
XM_011515890.1:c.2134G>T	XP_011514192.1:p.Gly712Cys
XM_011515891.1:c.2128G>T	XP_011514193.1:p.Gly710Cys
XM_011515892.1:c.2125G>T	XP_011514194.1:p.Gly709Cys
XM_011515893.1:c.2119G>T	XP_011514195.1:p.Gly707Cys
XM_011515894.1:c.2110G>T	XP_011514196.1:p.Gly704Cys
XM_011515895.1:c.2107G>T	XP_011514197.1:p.Gly703Cys
XM_011515896.1:c.1993G>T	XP_011514198.1:p.Gly665Cys
XM_011515897.1:c.1900G>T	XP_011514199.1:p.Gly634Cys
XM_011515898.1:c.1900G>T	XP_011514200.1:p.Gly634Cys
XR_928101.1:n.515+2590C>A
XR_928102.1:n.722+2590C>A
XM_005249962.4:c.2236G>T	XP_005250019.1:p.Gly746Cys
XM_005249963.4:c.2209G>T	XP_005250020.1:p.Gly737Cys
XM_005249964.4:c.2083G>T	XP_005250021.1:p.Gly695Cys
XM_011515883.2:c.2251G>T	XP_011514185.1:p.Gly751Cys
XM_011515884.2:c.2227G>T	XP_011514186.1:p.Gly743Cys
XM_011515885.2:c.2224G>T	XP_011514187.1:p.Gly742Cys
XM_011515886.2:c.2203G>T	XP_011514188.1:p.Gly735Cys
XM_011515887.3:c.2200G>T	XP_011514189.1:p.Gly734Cys
XM_011515888.2:c.2200G>T	XP_011514190.1:p.Gly734Cys
XM_011515889.2:c.2161G>T	XP_011514191.1:p.Gly721Cys
XM_011515890.2:c.2134G>T	XP_011514192.1:p.Gly712Cys
XM_011515891.3:c.2128G>T	XP_011514193.1:p.Gly710Cys
XM_011515892.2:c.2125G>T	XP_011514194.1:p.Gly709Cys
XM_011515893.2:c.2119G>T	XP_011514195.1:p.Gly707Cys
XM_011515894.2:c.2110G>T	XP_011514196.1:p.Gly704Cys
XM_011515895.2:c.2107G>T	XP_011514197.1:p.Gly703Cys
XM_011515896.2:c.1993G>T	XP_011514198.1:p.Gly665Cys
XM_011515897.2:c.1900G>T	XP_011514199.1:p.Gly634Cys
XM_011515898.2:c.1900G>T	XP_011514200.1:p.Gly634Cys
XM_017011817.2:c.2251G>T	XP_016867306.1:p.Gly751Cys
XM_017011818.1:c.2188G>T	XP_016867307.1:p.Gly730Cys
XM_017011819.1:c.2110G>T	XP_016867308.1:p.Gly704Cys
XM_017011820.2:c.2083G>T	XP_016867309.1:p.Gly695Cys
XM_017011821.1:c.1885G>T	XP_016867310.1:p.Gly629Cys
XM_024446680.1:c.2113G>T	XP_024302448.1:p.Gly705Cys
XR_001744581.1:n.4601G>T
XR_002956413.1:n.5257G>T
XR_002956414.1:n.5717G>T
NM_001203247.2:c.2212G>T	NP_001190176.1:p.Gly738Cys
NM_001203248.2:c.2185G>T	NP_001190177.1:p.Gly729Cys
NM_001203249.2:c.2059G>T	NP_001190178.1:p.Gly687Cys
NM_004456.5:c.2227G>T MANE Select	NP_004447.2:p.Gly743Cys
NM_152998.3:c.2095G>T	NP_694543.1:p.Gly699Cys