Canonical Allele Identifier: CA369713055

Gene: EZH2

Linked Data

• dbSNP Id: rs2129469014
• MyVariant Identifiers: chr7:g.148508737T>A (hg19) ; chr7:g.148811645T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.148811645T>A , CM000669.2:g.148811645T>A	GRCh38
NC_000007.13:g.148508737T>A , CM000669.1:g.148508737T>A	GRCh37
NC_000007.12:g.148139670T>A	NCBI36
NG_032043.1:g.77705A>T , LRG_531:g.77705A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682263.1:n.3827A>T
ENST00000682317.1:c.*989A>T	ENSP00000508286.1:n.*989A>T
ENST00000683292.1:c.*823A>T	ENSP00000507503.1:n.*823A>T
ENST00000683293.1:n.3646A>T
ENST00000683744.1:c.*989A>T	ENSP00000506949.1:n.*989A>T
ENST00000684300.1:c.*989A>T	ENSP00000508407.1:n.*989A>T
ENST00000684400.1:n.2818A>T
ENST00000684436.1:n.2243A>T
ENST00000684510.1:n.2305A>T
ENST00000320356.7:c.1927A>T MANE Select	ENSP00000320147.2:p.Ile643Phe
ENST00000320356.6:c.1927A>T	ENSP00000320147.2:p.Ile643Phe
ENST00000350995.6:c.1795A>T	ENSP00000223193.2:p.Ile599Phe
ENST00000460911.5:c.1912A>T	ENSP00000419711.1:p.Ile638Phe
ENST00000469631.1:n.179A>T
ENST00000476773.5:c.1759A>T	ENSP00000419050.1:p.Ile587Phe
ENST00000478654.5:c.1759A>T	ENSP00000417062.1:p.Ile587Phe
ENST00000483967.5:c.1885A>T	ENSP00000419856.1:p.Ile629Phe
ENST00000492143.5:c.*1917A>T	ENSP00000417377.1:n.*1917A>T
NM_001203247.1:c.1912A>T	NP_001190176.1:p.Ile638Phe
NM_001203248.1:c.1885A>T	NP_001190177.1:p.Ile629Phe
NM_001203249.1:c.1759A>T	NP_001190178.1:p.Ile587Phe
NM_004456.4:c.1927A>T , LRG_531t1:c.1927A>T	NP_004447.2:p.Ile643Phe
NM_152998.2:c.1795A>T	NP_694543.1:p.Ile599Phe
XM_005249962.3:c.1936A>T	XP_005250019.1:p.Ile646Phe
XM_005249963.3:c.1909A>T	XP_005250020.1:p.Ile637Phe
XM_005249964.3:c.1783A>T	XP_005250021.1:p.Ile595Phe
XM_011515883.1:c.1951A>T	XP_011514185.1:p.Ile651Phe
XM_011515884.1:c.1927A>T	XP_011514186.1:p.Ile643Phe
XM_011515885.1:c.1924A>T	XP_011514187.1:p.Ile642Phe
XM_011515886.1:c.1903A>T	XP_011514188.1:p.Ile635Phe
XM_011515887.1:c.1900A>T	XP_011514189.1:p.Ile634Phe
XM_011515888.1:c.1900A>T	XP_011514190.1:p.Ile634Phe
XM_011515889.1:c.1861A>T	XP_011514191.1:p.Ile621Phe
XM_011515890.1:c.1834A>T	XP_011514192.1:p.Ile612Phe
XM_011515891.1:c.1828A>T	XP_011514193.1:p.Ile610Phe
XM_011515892.1:c.1825A>T	XP_011514194.1:p.Ile609Phe
XM_011515893.1:c.1819A>T	XP_011514195.1:p.Ile607Phe
XM_011515894.1:c.1810A>T	XP_011514196.1:p.Ile604Phe
XM_011515895.1:c.1807A>T	XP_011514197.1:p.Ile603Phe
XM_011515896.1:c.1693A>T	XP_011514198.1:p.Ile565Phe
XM_011515897.1:c.1600A>T	XP_011514199.1:p.Ile534Phe
XM_011515898.1:c.1600A>T	XP_011514200.1:p.Ile534Phe
XR_928101.1:n.515+6560T>A
XR_928102.1:n.722+6560T>A
XM_005249962.4:c.1936A>T	XP_005250019.1:p.Ile646Phe
XM_005249963.4:c.1909A>T	XP_005250020.1:p.Ile637Phe
XM_005249964.4:c.1783A>T	XP_005250021.1:p.Ile595Phe
XM_011515883.2:c.1951A>T	XP_011514185.1:p.Ile651Phe
XM_011515884.2:c.1927A>T	XP_011514186.1:p.Ile643Phe
XM_011515885.2:c.1924A>T	XP_011514187.1:p.Ile642Phe
XM_011515886.2:c.1903A>T	XP_011514188.1:p.Ile635Phe
XM_011515887.3:c.1900A>T	XP_011514189.1:p.Ile634Phe
XM_011515888.2:c.1900A>T	XP_011514190.1:p.Ile634Phe
XM_011515889.2:c.1861A>T	XP_011514191.1:p.Ile621Phe
XM_011515890.2:c.1834A>T	XP_011514192.1:p.Ile612Phe
XM_011515891.3:c.1828A>T	XP_011514193.1:p.Ile610Phe
XM_011515892.2:c.1825A>T	XP_011514194.1:p.Ile609Phe
XM_011515893.2:c.1819A>T	XP_011514195.1:p.Ile607Phe
XM_011515894.2:c.1810A>T	XP_011514196.1:p.Ile604Phe
XM_011515895.2:c.1807A>T	XP_011514197.1:p.Ile603Phe
XM_011515896.2:c.1693A>T	XP_011514198.1:p.Ile565Phe
XM_011515897.2:c.1600A>T	XP_011514199.1:p.Ile534Phe
XM_011515898.2:c.1600A>T	XP_011514200.1:p.Ile534Phe
XM_017011817.2:c.1951A>T	XP_016867306.1:p.Ile651Phe
XM_017011818.1:c.1888A>T	XP_016867307.1:p.Ile630Phe
XM_017011819.1:c.1810A>T	XP_016867308.1:p.Ile604Phe
XM_017011820.2:c.1783A>T	XP_016867309.1:p.Ile595Phe
XM_017011821.1:c.1585A>T	XP_016867310.1:p.Ile529Phe
XM_024446680.1:c.1813A>T	XP_024302448.1:p.Ile605Phe
XR_001744581.1:n.4301A>T
XR_002956413.1:n.4957A>T
XR_002956414.1:n.5417A>T
NM_001203247.2:c.1912A>T	NP_001190176.1:p.Ile638Phe
NM_001203248.2:c.1885A>T	NP_001190177.1:p.Ile629Phe
NM_001203249.2:c.1759A>T	NP_001190178.1:p.Ile587Phe
NM_004456.5:c.1927A>T MANE Select	NP_004447.2:p.Ile643Phe
NM_152998.3:c.1795A>T	NP_694543.1:p.Ile599Phe