Canonical Allele Identifier: CA369712591

Gene: EZH2

Linked Data

• MyVariant Identifiers: chr7:g.148507453C>A (hg19) ; chr7:g.148810361C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.148810361C>A , CM000669.2:g.148810361C>A	GRCh38
NC_000007.13:g.148507453C>A , CM000669.1:g.148507453C>A	GRCh37
NC_000007.12:g.148138386C>A	NCBI36
NG_032043.1:g.78989G>T , LRG_531:g.78989G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682263.1:n.3901G>T
ENST00000682317.1:c.*1063G>T	ENSP00000508286.1:n.*1063G>T
ENST00000683292.1:c.*897G>T	ENSP00000507503.1:n.*897G>T
ENST00000683293.1:n.3720G>T
ENST00000683744.1:c.*1063G>T	ENSP00000506949.1:n.*1063G>T
ENST00000684300.1:c.*1063G>T	ENSP00000508407.1:n.*1063G>T
ENST00000684400.1:n.2892G>T
ENST00000684436.1:n.2317G>T
ENST00000684510.1:n.2379G>T
ENST00000320356.7:c.2001G>T MANE Select	ENSP00000320147.2:p.Met667Ile
ENST00000320356.6:c.2001G>T	ENSP00000320147.2:p.Met667Ile
ENST00000350995.6:c.1869G>T	ENSP00000223193.2:p.Met623Ile
ENST00000460911.5:c.1986G>T	ENSP00000419711.1:p.Met662Ile
ENST00000469631.1:n.253G>T
ENST00000476773.5:c.1833G>T	ENSP00000419050.1:p.Met611Ile
ENST00000478654.5:c.1833G>T	ENSP00000417062.1:p.Met611Ile
ENST00000483967.5:c.1959G>T	ENSP00000419856.1:p.Met653Ile
ENST00000492143.5:c.*1991G>T	ENSP00000417377.1:n.*1991G>T
NM_001203247.1:c.1986G>T	NP_001190176.1:p.Met662Ile
NM_001203248.1:c.1959G>T	NP_001190177.1:p.Met653Ile
NM_001203249.1:c.1833G>T	NP_001190178.1:p.Met611Ile
NM_004456.4:c.2001G>T , LRG_531t1:c.2001G>T	NP_004447.2:p.Met667Ile
NM_152998.2:c.1869G>T	NP_694543.1:p.Met623Ile
XM_005249962.3:c.2010G>T	XP_005250019.1:p.Met670Ile
XM_005249963.3:c.1983G>T	XP_005250020.1:p.Met661Ile
XM_005249964.3:c.1857G>T	XP_005250021.1:p.Met619Ile
XM_011515883.1:c.2025G>T	XP_011514185.1:p.Met675Ile
XM_011515884.1:c.2001G>T	XP_011514186.1:p.Met667Ile
XM_011515885.1:c.1998G>T	XP_011514187.1:p.Met666Ile
XM_011515886.1:c.1977G>T	XP_011514188.1:p.Met659Ile
XM_011515887.1:c.1974G>T	XP_011514189.1:p.Met658Ile
XM_011515888.1:c.1974G>T	XP_011514190.1:p.Met658Ile
XM_011515889.1:c.1935G>T	XP_011514191.1:p.Met645Ile
XM_011515890.1:c.1908G>T	XP_011514192.1:p.Met636Ile
XM_011515891.1:c.1902G>T	XP_011514193.1:p.Met634Ile
XM_011515892.1:c.1899G>T	XP_011514194.1:p.Met633Ile
XM_011515893.1:c.1893G>T	XP_011514195.1:p.Met631Ile
XM_011515894.1:c.1884G>T	XP_011514196.1:p.Met628Ile
XM_011515895.1:c.1881G>T	XP_011514197.1:p.Met627Ile
XM_011515896.1:c.1767G>T	XP_011514198.1:p.Met589Ile
XM_011515897.1:c.1674G>T	XP_011514199.1:p.Met558Ile
XM_011515898.1:c.1674G>T	XP_011514200.1:p.Met558Ile
XR_928101.1:n.515+5276C>A
XR_928102.1:n.722+5276C>A
XM_005249962.4:c.2010G>T	XP_005250019.1:p.Met670Ile
XM_005249963.4:c.1983G>T	XP_005250020.1:p.Met661Ile
XM_005249964.4:c.1857G>T	XP_005250021.1:p.Met619Ile
XM_011515883.2:c.2025G>T	XP_011514185.1:p.Met675Ile
XM_011515884.2:c.2001G>T	XP_011514186.1:p.Met667Ile
XM_011515885.2:c.1998G>T	XP_011514187.1:p.Met666Ile
XM_011515886.2:c.1977G>T	XP_011514188.1:p.Met659Ile
XM_011515887.3:c.1974G>T	XP_011514189.1:p.Met658Ile
XM_011515888.2:c.1974G>T	XP_011514190.1:p.Met658Ile
XM_011515889.2:c.1935G>T	XP_011514191.1:p.Met645Ile
XM_011515890.2:c.1908G>T	XP_011514192.1:p.Met636Ile
XM_011515891.3:c.1902G>T	XP_011514193.1:p.Met634Ile
XM_011515892.2:c.1899G>T	XP_011514194.1:p.Met633Ile
XM_011515893.2:c.1893G>T	XP_011514195.1:p.Met631Ile
XM_011515894.2:c.1884G>T	XP_011514196.1:p.Met628Ile
XM_011515895.2:c.1881G>T	XP_011514197.1:p.Met627Ile
XM_011515896.2:c.1767G>T	XP_011514198.1:p.Met589Ile
XM_011515897.2:c.1674G>T	XP_011514199.1:p.Met558Ile
XM_011515898.2:c.1674G>T	XP_011514200.1:p.Met558Ile
XM_017011817.2:c.2025G>T	XP_016867306.1:p.Met675Ile
XM_017011818.1:c.1962G>T	XP_016867307.1:p.Met654Ile
XM_017011819.1:c.1884G>T	XP_016867308.1:p.Met628Ile
XM_017011820.2:c.1857G>T	XP_016867309.1:p.Met619Ile
XM_017011821.1:c.1659G>T	XP_016867310.1:p.Met553Ile
XM_024446680.1:c.1887G>T	XP_024302448.1:p.Met629Ile
XR_001744581.1:n.4375G>T
XR_002956413.1:n.5031G>T
XR_002956414.1:n.5491G>T
NM_001203247.2:c.1986G>T	NP_001190176.1:p.Met662Ile
NM_001203248.2:c.1959G>T	NP_001190177.1:p.Met653Ile
NM_001203249.2:c.1833G>T	NP_001190178.1:p.Met611Ile
NM_004456.5:c.2001G>T MANE Select	NP_004447.2:p.Met667Ile
NM_152998.3:c.1869G>T	NP_694543.1:p.Met623Ile