Canonical Allele Identifier: CA369711790

Gene: EZH2

Linked Data

• gnomAD v4: 7-148807672-T-A
• MyVariant Identifiers: chr7:g.148504764T>A (hg19) ; chr7:g.148807672T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.148807672T>A , CM000669.2:g.148807672T>A	GRCh38
NC_000007.13:g.148504764T>A , CM000669.1:g.148504764T>A	GRCh37
NC_000007.12:g.148135697T>A	NCBI36
NG_032043.1:g.81678A>T , LRG_531:g.81678A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682263.1:n.4130A>T
ENST00000682317.1:c.*1292A>T	ENSP00000508286.1:n.*1292A>T
ENST00000683292.1:c.*1126A>T	ENSP00000507503.1:n.*1126A>T
ENST00000683293.1:n.3949A>T
ENST00000683744.1:c.*1292A>T	ENSP00000506949.1:n.*1292A>T
ENST00000684300.1:c.*1292A>T	ENSP00000508407.1:n.*1292A>T
ENST00000684400.1:n.4217A>T
ENST00000684436.1:n.2546A>T
ENST00000684510.1:n.2608A>T
ENST00000320356.7:c.2230A>T MANE Select	ENSP00000320147.2:p.Ile744Phe
ENST00000320356.6:c.2230A>T	ENSP00000320147.2:p.Ile744Phe
ENST00000350995.6:c.2098A>T	ENSP00000223193.2:p.Ile700Phe
ENST00000460911.5:c.2215A>T	ENSP00000419711.1:p.Ile739Phe
ENST00000476773.5:c.2062A>T	ENSP00000419050.1:p.Ile688Phe
ENST00000478654.5:c.2062A>T	ENSP00000417062.1:p.Ile688Phe
ENST00000483967.5:c.2188A>T	ENSP00000419856.1:p.Ile730Phe
ENST00000492143.5:c.*2220A>T	ENSP00000417377.1:n.*2220A>T
NM_001203247.1:c.2215A>T	NP_001190176.1:p.Ile739Phe
NM_001203248.1:c.2188A>T	NP_001190177.1:p.Ile730Phe
NM_001203249.1:c.2062A>T	NP_001190178.1:p.Ile688Phe
NM_004456.4:c.2230A>T , LRG_531t1:c.2230A>T	NP_004447.2:p.Ile744Phe
NM_152998.2:c.2098A>T	NP_694543.1:p.Ile700Phe
XM_005249962.3:c.2239A>T	XP_005250019.1:p.Ile747Phe
XM_005249963.3:c.2212A>T	XP_005250020.1:p.Ile738Phe
XM_005249964.3:c.2086A>T	XP_005250021.1:p.Ile696Phe
XM_011515883.1:c.2254A>T	XP_011514185.1:p.Ile752Phe
XM_011515884.1:c.2230A>T	XP_011514186.1:p.Ile744Phe
XM_011515885.1:c.2227A>T	XP_011514187.1:p.Ile743Phe
XM_011515886.1:c.2206A>T	XP_011514188.1:p.Ile736Phe
XM_011515887.1:c.2203A>T	XP_011514189.1:p.Ile735Phe
XM_011515888.1:c.2203A>T	XP_011514190.1:p.Ile735Phe
XM_011515889.1:c.2164A>T	XP_011514191.1:p.Ile722Phe
XM_011515890.1:c.2137A>T	XP_011514192.1:p.Ile713Phe
XM_011515891.1:c.2131A>T	XP_011514193.1:p.Ile711Phe
XM_011515892.1:c.2128A>T	XP_011514194.1:p.Ile710Phe
XM_011515893.1:c.2122A>T	XP_011514195.1:p.Ile708Phe
XM_011515894.1:c.2113A>T	XP_011514196.1:p.Ile705Phe
XM_011515895.1:c.2110A>T	XP_011514197.1:p.Ile704Phe
XM_011515896.1:c.1996A>T	XP_011514198.1:p.Ile666Phe
XM_011515897.1:c.1903A>T	XP_011514199.1:p.Ile635Phe
XM_011515898.1:c.1903A>T	XP_011514200.1:p.Ile635Phe
XR_928101.1:n.515+2587T>A
XR_928102.1:n.722+2587T>A
XM_005249962.4:c.2239A>T	XP_005250019.1:p.Ile747Phe
XM_005249963.4:c.2212A>T	XP_005250020.1:p.Ile738Phe
XM_005249964.4:c.2086A>T	XP_005250021.1:p.Ile696Phe
XM_011515883.2:c.2254A>T	XP_011514185.1:p.Ile752Phe
XM_011515884.2:c.2230A>T	XP_011514186.1:p.Ile744Phe
XM_011515885.2:c.2227A>T	XP_011514187.1:p.Ile743Phe
XM_011515886.2:c.2206A>T	XP_011514188.1:p.Ile736Phe
XM_011515887.3:c.2203A>T	XP_011514189.1:p.Ile735Phe
XM_011515888.2:c.2203A>T	XP_011514190.1:p.Ile735Phe
XM_011515889.2:c.2164A>T	XP_011514191.1:p.Ile722Phe
XM_011515890.2:c.2137A>T	XP_011514192.1:p.Ile713Phe
XM_011515891.3:c.2131A>T	XP_011514193.1:p.Ile711Phe
XM_011515892.2:c.2128A>T	XP_011514194.1:p.Ile710Phe
XM_011515893.2:c.2122A>T	XP_011514195.1:p.Ile708Phe
XM_011515894.2:c.2113A>T	XP_011514196.1:p.Ile705Phe
XM_011515895.2:c.2110A>T	XP_011514197.1:p.Ile704Phe
XM_011515896.2:c.1996A>T	XP_011514198.1:p.Ile666Phe
XM_011515897.2:c.1903A>T	XP_011514199.1:p.Ile635Phe
XM_011515898.2:c.1903A>T	XP_011514200.1:p.Ile635Phe
XM_017011817.2:c.2254A>T	XP_016867306.1:p.Ile752Phe
XM_017011818.1:c.2191A>T	XP_016867307.1:p.Ile731Phe
XM_017011819.1:c.2113A>T	XP_016867308.1:p.Ile705Phe
XM_017011820.2:c.2086A>T	XP_016867309.1:p.Ile696Phe
XM_017011821.1:c.1888A>T	XP_016867310.1:p.Ile630Phe
XM_024446680.1:c.2116A>T	XP_024302448.1:p.Ile706Phe
XR_001744581.1:n.4604A>T
XR_002956413.1:n.5260A>T
XR_002956414.1:n.5720A>T
NM_001203247.2:c.2215A>T	NP_001190176.1:p.Ile739Phe
NM_001203248.2:c.2188A>T	NP_001190177.1:p.Ile730Phe
NM_001203249.2:c.2062A>T	NP_001190178.1:p.Ile688Phe
NM_004456.5:c.2230A>T MANE Select	NP_004447.2:p.Ile744Phe
NM_152998.3:c.2098A>T	NP_694543.1:p.Ile700Phe