Canonical Allele Identifier: CA369712599

Gene: EZH2

Linked Data

• gnomAD v4: 7-148810363-T-C
• MyVariant Identifiers: chr7:g.148507455T>C (hg19) ; chr7:g.148810363T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.148810363T>C , CM000669.2:g.148810363T>C	GRCh38
NC_000007.13:g.148507455T>C , CM000669.1:g.148507455T>C	GRCh37
NC_000007.12:g.148138388T>C	NCBI36
NG_032043.1:g.78987A>G , LRG_531:g.78987A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682263.1:n.3899A>G
ENST00000682317.1:c.*1061A>G	ENSP00000508286.1:n.*1061A>G
ENST00000683292.1:c.*895A>G	ENSP00000507503.1:n.*895A>G
ENST00000683293.1:n.3718A>G
ENST00000683744.1:c.*1061A>G	ENSP00000506949.1:n.*1061A>G
ENST00000684300.1:c.*1061A>G	ENSP00000508407.1:n.*1061A>G
ENST00000684400.1:n.2890A>G
ENST00000684436.1:n.2315A>G
ENST00000684510.1:n.2377A>G
ENST00000320356.7:c.1999A>G MANE Select	ENSP00000320147.2:p.Met667Val
ENST00000320356.6:c.1999A>G	ENSP00000320147.2:p.Met667Val
ENST00000350995.6:c.1867A>G	ENSP00000223193.2:p.Met623Val
ENST00000460911.5:c.1984A>G	ENSP00000419711.1:p.Met662Val
ENST00000469631.1:n.251A>G
ENST00000476773.5:c.1831A>G	ENSP00000419050.1:p.Met611Val
ENST00000478654.5:c.1831A>G	ENSP00000417062.1:p.Met611Val
ENST00000483967.5:c.1957A>G	ENSP00000419856.1:p.Met653Val
ENST00000492143.5:c.*1989A>G	ENSP00000417377.1:n.*1989A>G
NM_001203247.1:c.1984A>G	NP_001190176.1:p.Met662Val
NM_001203248.1:c.1957A>G	NP_001190177.1:p.Met653Val
NM_001203249.1:c.1831A>G	NP_001190178.1:p.Met611Val
NM_004456.4:c.1999A>G , LRG_531t1:c.1999A>G	NP_004447.2:p.Met667Val
NM_152998.2:c.1867A>G	NP_694543.1:p.Met623Val
XM_005249962.3:c.2008A>G	XP_005250019.1:p.Met670Val
XM_005249963.3:c.1981A>G	XP_005250020.1:p.Met661Val
XM_005249964.3:c.1855A>G	XP_005250021.1:p.Met619Val
XM_011515883.1:c.2023A>G	XP_011514185.1:p.Met675Val
XM_011515884.1:c.1999A>G	XP_011514186.1:p.Met667Val
XM_011515885.1:c.1996A>G	XP_011514187.1:p.Met666Val
XM_011515886.1:c.1975A>G	XP_011514188.1:p.Met659Val
XM_011515887.1:c.1972A>G	XP_011514189.1:p.Met658Val
XM_011515888.1:c.1972A>G	XP_011514190.1:p.Met658Val
XM_011515889.1:c.1933A>G	XP_011514191.1:p.Met645Val
XM_011515890.1:c.1906A>G	XP_011514192.1:p.Met636Val
XM_011515891.1:c.1900A>G	XP_011514193.1:p.Met634Val
XM_011515892.1:c.1897A>G	XP_011514194.1:p.Met633Val
XM_011515893.1:c.1891A>G	XP_011514195.1:p.Met631Val
XM_011515894.1:c.1882A>G	XP_011514196.1:p.Met628Val
XM_011515895.1:c.1879A>G	XP_011514197.1:p.Met627Val
XM_011515896.1:c.1765A>G	XP_011514198.1:p.Met589Val
XM_011515897.1:c.1672A>G	XP_011514199.1:p.Met558Val
XM_011515898.1:c.1672A>G	XP_011514200.1:p.Met558Val
XR_928101.1:n.515+5278T>C
XR_928102.1:n.722+5278T>C
XM_005249962.4:c.2008A>G	XP_005250019.1:p.Met670Val
XM_005249963.4:c.1981A>G	XP_005250020.1:p.Met661Val
XM_005249964.4:c.1855A>G	XP_005250021.1:p.Met619Val
XM_011515883.2:c.2023A>G	XP_011514185.1:p.Met675Val
XM_011515884.2:c.1999A>G	XP_011514186.1:p.Met667Val
XM_011515885.2:c.1996A>G	XP_011514187.1:p.Met666Val
XM_011515886.2:c.1975A>G	XP_011514188.1:p.Met659Val
XM_011515887.3:c.1972A>G	XP_011514189.1:p.Met658Val
XM_011515888.2:c.1972A>G	XP_011514190.1:p.Met658Val
XM_011515889.2:c.1933A>G	XP_011514191.1:p.Met645Val
XM_011515890.2:c.1906A>G	XP_011514192.1:p.Met636Val
XM_011515891.3:c.1900A>G	XP_011514193.1:p.Met634Val
XM_011515892.2:c.1897A>G	XP_011514194.1:p.Met633Val
XM_011515893.2:c.1891A>G	XP_011514195.1:p.Met631Val
XM_011515894.2:c.1882A>G	XP_011514196.1:p.Met628Val
XM_011515895.2:c.1879A>G	XP_011514197.1:p.Met627Val
XM_011515896.2:c.1765A>G	XP_011514198.1:p.Met589Val
XM_011515897.2:c.1672A>G	XP_011514199.1:p.Met558Val
XM_011515898.2:c.1672A>G	XP_011514200.1:p.Met558Val
XM_017011817.2:c.2023A>G	XP_016867306.1:p.Met675Val
XM_017011818.1:c.1960A>G	XP_016867307.1:p.Met654Val
XM_017011819.1:c.1882A>G	XP_016867308.1:p.Met628Val
XM_017011820.2:c.1855A>G	XP_016867309.1:p.Met619Val
XM_017011821.1:c.1657A>G	XP_016867310.1:p.Met553Val
XM_024446680.1:c.1885A>G	XP_024302448.1:p.Met629Val
XR_001744581.1:n.4373A>G
XR_002956413.1:n.5029A>G
XR_002956414.1:n.5489A>G
NM_001203247.2:c.1984A>G	NP_001190176.1:p.Met662Val
NM_001203248.2:c.1957A>G	NP_001190177.1:p.Met653Val
NM_001203249.2:c.1831A>G	NP_001190178.1:p.Met611Val
NM_004456.5:c.1999A>G MANE Select	NP_004447.2:p.Met667Val
NM_152998.3:c.1867A>G	NP_694543.1:p.Met623Val