Canonical Allele Identifier: CA369711853

Gene: EZH2

Linked Data

• MyVariant Identifiers: chr7:g.148504793C>T (hg19) ; chr7:g.148807701C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.148807701C>T , CM000669.2:g.148807701C>T	GRCh38
NC_000007.13:g.148504793C>T , CM000669.1:g.148504793C>T	GRCh37
NC_000007.12:g.148135726C>T	NCBI36
NG_032043.1:g.81649G>A , LRG_531:g.81649G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682263.1:n.4101G>A
ENST00000682317.1:c.*1263G>A	ENSP00000508286.1:n.*1263G>A
ENST00000683292.1:c.*1097G>A	ENSP00000507503.1:n.*1097G>A
ENST00000683293.1:n.3920G>A
ENST00000683744.1:c.*1263G>A	ENSP00000506949.1:n.*1263G>A
ENST00000684300.1:c.*1263G>A	ENSP00000508407.1:n.*1263G>A
ENST00000684400.1:n.4188G>A
ENST00000684436.1:n.2517G>A
ENST00000684510.1:n.2579G>A
ENST00000320356.7:c.2201G>A MANE Select	ENSP00000320147.2:p.Ser734Asn
ENST00000320356.6:c.2201G>A	ENSP00000320147.2:p.Ser734Asn
ENST00000350995.6:c.2069G>A	ENSP00000223193.2:p.Ser690Asn
ENST00000460911.5:c.2186G>A	ENSP00000419711.1:p.Ser729Asn
ENST00000476773.5:c.2033G>A	ENSP00000419050.1:p.Ser678Asn
ENST00000478654.5:c.2033G>A	ENSP00000417062.1:p.Ser678Asn
ENST00000483967.5:c.2159G>A	ENSP00000419856.1:p.Ser720Asn
ENST00000492143.5:c.*2191G>A	ENSP00000417377.1:n.*2191G>A
NM_001203247.1:c.2186G>A	NP_001190176.1:p.Ser729Asn
NM_001203248.1:c.2159G>A	NP_001190177.1:p.Ser720Asn
NM_001203249.1:c.2033G>A	NP_001190178.1:p.Ser678Asn
NM_004456.4:c.2201G>A , LRG_531t1:c.2201G>A	NP_004447.2:p.Ser734Asn
NM_152998.2:c.2069G>A	NP_694543.1:p.Ser690Asn
XM_005249962.3:c.2210G>A	XP_005250019.1:p.Ser737Asn
XM_005249963.3:c.2183G>A	XP_005250020.1:p.Ser728Asn
XM_005249964.3:c.2057G>A	XP_005250021.1:p.Ser686Asn
XM_011515883.1:c.2225G>A	XP_011514185.1:p.Ser742Asn
XM_011515884.1:c.2201G>A	XP_011514186.1:p.Ser734Asn
XM_011515885.1:c.2198G>A	XP_011514187.1:p.Ser733Asn
XM_011515886.1:c.2177G>A	XP_011514188.1:p.Ser726Asn
XM_011515887.1:c.2174G>A	XP_011514189.1:p.Ser725Asn
XM_011515888.1:c.2174G>A	XP_011514190.1:p.Ser725Asn
XM_011515889.1:c.2135G>A	XP_011514191.1:p.Ser712Asn
XM_011515890.1:c.2108G>A	XP_011514192.1:p.Ser703Asn
XM_011515891.1:c.2102G>A	XP_011514193.1:p.Ser701Asn
XM_011515892.1:c.2099G>A	XP_011514194.1:p.Ser700Asn
XM_011515893.1:c.2093G>A	XP_011514195.1:p.Ser698Asn
XM_011515894.1:c.2084G>A	XP_011514196.1:p.Ser695Asn
XM_011515895.1:c.2081G>A	XP_011514197.1:p.Ser694Asn
XM_011515896.1:c.1967G>A	XP_011514198.1:p.Ser656Asn
XM_011515897.1:c.1874G>A	XP_011514199.1:p.Ser625Asn
XM_011515898.1:c.1874G>A	XP_011514200.1:p.Ser625Asn
XR_928101.1:n.515+2616C>T
XR_928102.1:n.722+2616C>T
XM_005249962.4:c.2210G>A	XP_005250019.1:p.Ser737Asn
XM_005249963.4:c.2183G>A	XP_005250020.1:p.Ser728Asn
XM_005249964.4:c.2057G>A	XP_005250021.1:p.Ser686Asn
XM_011515883.2:c.2225G>A	XP_011514185.1:p.Ser742Asn
XM_011515884.2:c.2201G>A	XP_011514186.1:p.Ser734Asn
XM_011515885.2:c.2198G>A	XP_011514187.1:p.Ser733Asn
XM_011515886.2:c.2177G>A	XP_011514188.1:p.Ser726Asn
XM_011515887.3:c.2174G>A	XP_011514189.1:p.Ser725Asn
XM_011515888.2:c.2174G>A	XP_011514190.1:p.Ser725Asn
XM_011515889.2:c.2135G>A	XP_011514191.1:p.Ser712Asn
XM_011515890.2:c.2108G>A	XP_011514192.1:p.Ser703Asn
XM_011515891.3:c.2102G>A	XP_011514193.1:p.Ser701Asn
XM_011515892.2:c.2099G>A	XP_011514194.1:p.Ser700Asn
XM_011515893.2:c.2093G>A	XP_011514195.1:p.Ser698Asn
XM_011515894.2:c.2084G>A	XP_011514196.1:p.Ser695Asn
XM_011515895.2:c.2081G>A	XP_011514197.1:p.Ser694Asn
XM_011515896.2:c.1967G>A	XP_011514198.1:p.Ser656Asn
XM_011515897.2:c.1874G>A	XP_011514199.1:p.Ser625Asn
XM_011515898.2:c.1874G>A	XP_011514200.1:p.Ser625Asn
XM_017011817.2:c.2225G>A	XP_016867306.1:p.Ser742Asn
XM_017011818.1:c.2162G>A	XP_016867307.1:p.Ser721Asn
XM_017011819.1:c.2084G>A	XP_016867308.1:p.Ser695Asn
XM_017011820.2:c.2057G>A	XP_016867309.1:p.Ser686Asn
XM_017011821.1:c.1859G>A	XP_016867310.1:p.Ser620Asn
XM_024446680.1:c.2087G>A	XP_024302448.1:p.Ser696Asn
XR_001744581.1:n.4575G>A
XR_002956413.1:n.5231G>A
XR_002956414.1:n.5691G>A
NM_001203247.2:c.2186G>A	NP_001190176.1:p.Ser729Asn
NM_001203248.2:c.2159G>A	NP_001190177.1:p.Ser720Asn
NM_001203249.2:c.2033G>A	NP_001190178.1:p.Ser678Asn
NM_004456.5:c.2201G>A MANE Select	NP_004447.2:p.Ser734Asn
NM_152998.3:c.2069G>A	NP_694543.1:p.Ser690Asn