Canonical Allele Identifier: CA369711777

Gene: EZH2

Linked Data

• ClinVar Variation Id: 975993
• ClinVar RCV Id: RCV001253148
• dbSNP Id: rs1563181538
• MyVariant Identifiers: chr7:g.148504759T>A (hg19) ; chr7:g.148807667T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.148807667T>A , CM000669.2:g.148807667T>A	GRCh38
NC_000007.13:g.148504759T>A , CM000669.1:g.148504759T>A	GRCh37
NC_000007.12:g.148135692T>A	NCBI36
NG_032043.1:g.81683A>T , LRG_531:g.81683A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682263.1:n.4135A>T
ENST00000682317.1:c.*1297A>T	ENSP00000508286.1:n.*1297A>T
ENST00000683292.1:c.*1131A>T	ENSP00000507503.1:n.*1131A>T
ENST00000683293.1:n.3954A>T
ENST00000683744.1:c.*1297A>T	ENSP00000506949.1:n.*1297A>T
ENST00000684300.1:c.*1297A>T	ENSP00000508407.1:n.*1297A>T
ENST00000684400.1:n.4222A>T
ENST00000684436.1:n.2551A>T
ENST00000684510.1:n.2613A>T
ENST00000320356.7:c.2235A>T MANE Select	ENSP00000320147.2:p.Glu745Asp
ENST00000320356.6:c.2235A>T	ENSP00000320147.2:p.Glu745Asp
ENST00000350995.6:c.2103A>T	ENSP00000223193.2:p.Glu701Asp
ENST00000460911.5:c.2220A>T	ENSP00000419711.1:p.Glu740Asp
ENST00000476773.5:c.2067A>T	ENSP00000419050.1:p.Glu689Asp
ENST00000478654.5:c.2067A>T	ENSP00000417062.1:p.Glu689Asp
ENST00000483967.5:c.2193A>T	ENSP00000419856.1:p.Glu731Asp
ENST00000492143.5:c.*2225A>T	ENSP00000417377.1:n.*2225A>T
NM_001203247.1:c.2220A>T	NP_001190176.1:p.Glu740Asp
NM_001203248.1:c.2193A>T	NP_001190177.1:p.Glu731Asp
NM_001203249.1:c.2067A>T	NP_001190178.1:p.Glu689Asp
NM_004456.4:c.2235A>T , LRG_531t1:c.2235A>T	NP_004447.2:p.Glu745Asp
NM_152998.2:c.2103A>T	NP_694543.1:p.Glu701Asp
XM_005249962.3:c.2244A>T	XP_005250019.1:p.Glu748Asp
XM_005249963.3:c.2217A>T	XP_005250020.1:p.Glu739Asp
XM_005249964.3:c.2091A>T	XP_005250021.1:p.Glu697Asp
XM_011515883.1:c.2259A>T	XP_011514185.1:p.Glu753Asp
XM_011515884.1:c.2235A>T	XP_011514186.1:p.Glu745Asp
XM_011515885.1:c.2232A>T	XP_011514187.1:p.Glu744Asp
XM_011515886.1:c.2211A>T	XP_011514188.1:p.Glu737Asp
XM_011515887.1:c.2208A>T	XP_011514189.1:p.Glu736Asp
XM_011515888.1:c.2208A>T	XP_011514190.1:p.Glu736Asp
XM_011515889.1:c.2169A>T	XP_011514191.1:p.Glu723Asp
XM_011515890.1:c.2142A>T	XP_011514192.1:p.Glu714Asp
XM_011515891.1:c.2136A>T	XP_011514193.1:p.Glu712Asp
XM_011515892.1:c.2133A>T	XP_011514194.1:p.Glu711Asp
XM_011515893.1:c.2127A>T	XP_011514195.1:p.Glu709Asp
XM_011515894.1:c.2118A>T	XP_011514196.1:p.Glu706Asp
XM_011515895.1:c.2115A>T	XP_011514197.1:p.Glu705Asp
XM_011515896.1:c.2001A>T	XP_011514198.1:p.Glu667Asp
XM_011515897.1:c.1908A>T	XP_011514199.1:p.Glu636Asp
XM_011515898.1:c.1908A>T	XP_011514200.1:p.Glu636Asp
XR_928101.1:n.515+2582T>A
XR_928102.1:n.722+2582T>A
XM_005249962.4:c.2244A>T	XP_005250019.1:p.Glu748Asp
XM_005249963.4:c.2217A>T	XP_005250020.1:p.Glu739Asp
XM_005249964.4:c.2091A>T	XP_005250021.1:p.Glu697Asp
XM_011515883.2:c.2259A>T	XP_011514185.1:p.Glu753Asp
XM_011515884.2:c.2235A>T	XP_011514186.1:p.Glu745Asp
XM_011515885.2:c.2232A>T	XP_011514187.1:p.Glu744Asp
XM_011515886.2:c.2211A>T	XP_011514188.1:p.Glu737Asp
XM_011515887.3:c.2208A>T	XP_011514189.1:p.Glu736Asp
XM_011515888.2:c.2208A>T	XP_011514190.1:p.Glu736Asp
XM_011515889.2:c.2169A>T	XP_011514191.1:p.Glu723Asp
XM_011515890.2:c.2142A>T	XP_011514192.1:p.Glu714Asp
XM_011515891.3:c.2136A>T	XP_011514193.1:p.Glu712Asp
XM_011515892.2:c.2133A>T	XP_011514194.1:p.Glu711Asp
XM_011515893.2:c.2127A>T	XP_011514195.1:p.Glu709Asp
XM_011515894.2:c.2118A>T	XP_011514196.1:p.Glu706Asp
XM_011515895.2:c.2115A>T	XP_011514197.1:p.Glu705Asp
XM_011515896.2:c.2001A>T	XP_011514198.1:p.Glu667Asp
XM_011515897.2:c.1908A>T	XP_011514199.1:p.Glu636Asp
XM_011515898.2:c.1908A>T	XP_011514200.1:p.Glu636Asp
XM_017011817.2:c.2259A>T	XP_016867306.1:p.Glu753Asp
XM_017011818.1:c.2196A>T	XP_016867307.1:p.Glu732Asp
XM_017011819.1:c.2118A>T	XP_016867308.1:p.Glu706Asp
XM_017011820.2:c.2091A>T	XP_016867309.1:p.Glu697Asp
XM_017011821.1:c.1893A>T	XP_016867310.1:p.Glu631Asp
XM_024446680.1:c.2121A>T	XP_024302448.1:p.Glu707Asp
XR_001744581.1:n.4609A>T
XR_002956413.1:n.5265A>T
XR_002956414.1:n.5725A>T
NM_001203247.2:c.2220A>T	NP_001190176.1:p.Glu740Asp
NM_001203248.2:c.2193A>T	NP_001190177.1:p.Glu731Asp
NM_001203249.2:c.2067A>T	NP_001190178.1:p.Glu689Asp
NM_004456.5:c.2235A>T MANE Select	NP_004447.2:p.Glu745Asp
NM_152998.3:c.2103A>T	NP_694543.1:p.Glu701Asp