Canonical Allele Identifier: CA369711760

Gene: EZH2

Linked Data

• MyVariant Identifiers: chr7:g.148504752T>A (hg19) ; chr7:g.148807660T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.148807660T>A , CM000669.2:g.148807660T>A	GRCh38
NC_000007.13:g.148504752T>A , CM000669.1:g.148504752T>A	GRCh37
NC_000007.12:g.148135685T>A	NCBI36
NG_032043.1:g.81690A>T , LRG_531:g.81690A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682263.1:n.4142A>T
ENST00000682317.1:c.*1304A>T	ENSP00000508286.1:n.*1304A>T
ENST00000683292.1:c.*1138A>T	ENSP00000507503.1:n.*1138A>T
ENST00000683293.1:n.3961A>T
ENST00000683744.1:c.*1304A>T	ENSP00000506949.1:n.*1304A>T
ENST00000684300.1:c.*1304A>T	ENSP00000508407.1:n.*1304A>T
ENST00000684400.1:n.4229A>T
ENST00000684436.1:n.2558A>T
ENST00000684510.1:n.2620A>T
ENST00000320356.7:c.2242A>T MANE Select	ENSP00000320147.2:p.Met748Leu
ENST00000320356.6:c.2242A>T	ENSP00000320147.2:p.Met748Leu
ENST00000350995.6:c.2110A>T	ENSP00000223193.2:p.Met704Leu
ENST00000460911.5:c.2227A>T	ENSP00000419711.1:p.Met743Leu
ENST00000476773.5:c.2074A>T	ENSP00000419050.1:p.Met692Leu
ENST00000478654.5:c.2074A>T	ENSP00000417062.1:p.Met692Leu
ENST00000483967.5:c.2200A>T	ENSP00000419856.1:p.Met734Leu
ENST00000492143.5:c.*2232A>T	ENSP00000417377.1:n.*2232A>T
NM_001203247.1:c.2227A>T	NP_001190176.1:p.Met743Leu
NM_001203248.1:c.2200A>T	NP_001190177.1:p.Met734Leu
NM_001203249.1:c.2074A>T	NP_001190178.1:p.Met692Leu
NM_004456.4:c.2242A>T , LRG_531t1:c.2242A>T	NP_004447.2:p.Met748Leu
NM_152998.2:c.2110A>T	NP_694543.1:p.Met704Leu
XM_005249962.3:c.2251A>T	XP_005250019.1:p.Met751Leu
XM_005249963.3:c.2224A>T	XP_005250020.1:p.Met742Leu
XM_005249964.3:c.2098A>T	XP_005250021.1:p.Met700Leu
XM_011515883.1:c.2266A>T	XP_011514185.1:p.Met756Leu
XM_011515884.1:c.2242A>T	XP_011514186.1:p.Met748Leu
XM_011515885.1:c.2239A>T	XP_011514187.1:p.Met747Leu
XM_011515886.1:c.2218A>T	XP_011514188.1:p.Met740Leu
XM_011515887.1:c.2215A>T	XP_011514189.1:p.Met739Leu
XM_011515888.1:c.2215A>T	XP_011514190.1:p.Met739Leu
XM_011515889.1:c.2176A>T	XP_011514191.1:p.Met726Leu
XM_011515890.1:c.2149A>T	XP_011514192.1:p.Met717Leu
XM_011515891.1:c.2143A>T	XP_011514193.1:p.Met715Leu
XM_011515892.1:c.2140A>T	XP_011514194.1:p.Met714Leu
XM_011515893.1:c.2134A>T	XP_011514195.1:p.Met712Leu
XM_011515894.1:c.2125A>T	XP_011514196.1:p.Met709Leu
XM_011515895.1:c.2122A>T	XP_011514197.1:p.Met708Leu
XM_011515896.1:c.2008A>T	XP_011514198.1:p.Met670Leu
XM_011515897.1:c.1915A>T	XP_011514199.1:p.Met639Leu
XM_011515898.1:c.1915A>T	XP_011514200.1:p.Met639Leu
XR_928101.1:n.515+2575T>A
XR_928102.1:n.722+2575T>A
XM_005249962.4:c.2251A>T	XP_005250019.1:p.Met751Leu
XM_005249963.4:c.2224A>T	XP_005250020.1:p.Met742Leu
XM_005249964.4:c.2098A>T	XP_005250021.1:p.Met700Leu
XM_011515883.2:c.2266A>T	XP_011514185.1:p.Met756Leu
XM_011515884.2:c.2242A>T	XP_011514186.1:p.Met748Leu
XM_011515885.2:c.2239A>T	XP_011514187.1:p.Met747Leu
XM_011515886.2:c.2218A>T	XP_011514188.1:p.Met740Leu
XM_011515887.3:c.2215A>T	XP_011514189.1:p.Met739Leu
XM_011515888.2:c.2215A>T	XP_011514190.1:p.Met739Leu
XM_011515889.2:c.2176A>T	XP_011514191.1:p.Met726Leu
XM_011515890.2:c.2149A>T	XP_011514192.1:p.Met717Leu
XM_011515891.3:c.2143A>T	XP_011514193.1:p.Met715Leu
XM_011515892.2:c.2140A>T	XP_011514194.1:p.Met714Leu
XM_011515893.2:c.2134A>T	XP_011514195.1:p.Met712Leu
XM_011515894.2:c.2125A>T	XP_011514196.1:p.Met709Leu
XM_011515895.2:c.2122A>T	XP_011514197.1:p.Met708Leu
XM_011515896.2:c.2008A>T	XP_011514198.1:p.Met670Leu
XM_011515897.2:c.1915A>T	XP_011514199.1:p.Met639Leu
XM_011515898.2:c.1915A>T	XP_011514200.1:p.Met639Leu
XM_017011817.2:c.2266A>T	XP_016867306.1:p.Met756Leu
XM_017011818.1:c.2203A>T	XP_016867307.1:p.Met735Leu
XM_017011819.1:c.2125A>T	XP_016867308.1:p.Met709Leu
XM_017011820.2:c.2098A>T	XP_016867309.1:p.Met700Leu
XM_017011821.1:c.1900A>T	XP_016867310.1:p.Met634Leu
XM_024446680.1:c.2128A>T	XP_024302448.1:p.Met710Leu
XR_001744581.1:n.4616A>T
XR_002956413.1:n.5272A>T
XR_002956414.1:n.5732A>T
NM_001203247.2:c.2227A>T	NP_001190176.1:p.Met743Leu
NM_001203248.2:c.2200A>T	NP_001190177.1:p.Met734Leu
NM_001203249.2:c.2074A>T	NP_001190178.1:p.Met692Leu
NM_004456.5:c.2242A>T MANE Select	NP_004447.2:p.Met748Leu
NM_152998.3:c.2110A>T	NP_694543.1:p.Met704Leu