Canonical Allele Identifier: CA2685464911
Gene: EZH2 HGNC NCBI

Linked Data

gnomAD v4: 7-148810258-T-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.148810258T>G , CM000669.2:g.148810258T>G GRCh38
NC_000007.13:g.148507350T>G , CM000669.1:g.148507350T>G GRCh37
NC_000007.12:g.148138283T>G NCBI36
NG_032043.1:g.79092A>C , LRG_531:g.79092A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000682263.1:n.3929+75A>C
ENST00000682317.1:c.*1091+75A>C ENSP00000508286.1:n.*1091+75A>C
ENST00000683292.1:c.*925+75A>C ENSP00000507503.1:n.*925+75A>C
ENST00000683293.1:n.3748+75A>C
ENST00000683744.1:c.*1091+75A>C ENSP00000506949.1:n.*1091+75A>C
ENST00000684300.1:c.*1091+75A>C ENSP00000508407.1:n.*1091+75A>C
ENST00000684400.1:n.2995A>C
ENST00000684436.1:n.2345+75A>C
ENST00000684510.1:n.2407+75A>C
ENST00000320356.7:c.2029+75A>C MANE Select ENSP00000320147.2:n.2029+75A>C
ENST00000320356.6:c.2029+75A>C ENSP00000320147.2:n.2029+75A>C
ENST00000350995.6:c.1897+75A>C ENSP00000223193.2:n.1897+75A>C
ENST00000460911.5:c.2014+75A>C ENSP00000419711.1:n.2014+75A>C
ENST00000469631.1:n.356A>C
ENST00000476773.5:c.1861+75A>C ENSP00000419050.1:n.1861+75A>C
ENST00000478654.5:c.1861+75A>C ENSP00000417062.1:n.1861+75A>C
ENST00000483967.5:c.1987+75A>C ENSP00000419856.1:n.1987+75A>C
ENST00000492143.5:c.*2019+75A>C ENSP00000417377.1:n.*2019+75A>C
NM_001203247.1:c.2014+75A>C NP_001190176.1:n.2014+75A>C
NM_001203248.1:c.1987+75A>C NP_001190177.1:n.1987+75A>C
NM_001203249.1:c.1861+75A>C NP_001190178.1:n.1861+75A>C
NM_004456.4:c.2029+75A>C , LRG_531t1:c.2029+75A>C NP_004447.2:n.2029+75A>C
NM_152998.2:c.1897+75A>C NP_694543.1:n.1897+75A>C
XM_005249962.3:c.2038+75A>C XP_005250019.1:n.2038+75A>C
XM_005249963.3:c.2011+75A>C XP_005250020.1:n.2011+75A>C
XM_005249964.3:c.1885+75A>C XP_005250021.1:n.1885+75A>C
XM_011515883.1:c.2053+75A>C XP_011514185.1:n.2053+75A>C
XM_011515884.1:c.2029+75A>C XP_011514186.1:n.2029+75A>C
XM_011515885.1:c.2026+75A>C XP_011514187.1:n.2026+75A>C
XM_011515886.1:c.2005+75A>C XP_011514188.1:n.2005+75A>C
XM_011515887.1:c.2002+75A>C XP_011514189.1:n.2002+75A>C
XM_011515888.1:c.2002+75A>C XP_011514190.1:n.2002+75A>C
XM_011515889.1:c.1963+75A>C XP_011514191.1:n.1963+75A>C
XM_011515890.1:c.1936+75A>C XP_011514192.1:n.1936+75A>C
XM_011515891.1:c.1930+75A>C XP_011514193.1:n.1930+75A>C
XM_011515892.1:c.1927+75A>C XP_011514194.1:n.1927+75A>C
XM_011515893.1:c.1921+75A>C XP_011514195.1:n.1921+75A>C
XM_011515894.1:c.1912+75A>C XP_011514196.1:n.1912+75A>C
XM_011515895.1:c.1909+75A>C XP_011514197.1:n.1909+75A>C
XM_011515896.1:c.1795+75A>C XP_011514198.1:n.1795+75A>C
XM_011515897.1:c.1702+75A>C XP_011514199.1:n.1702+75A>C
XM_011515898.1:c.1702+75A>C XP_011514200.1:n.1702+75A>C
XR_928101.1:n.515+5173T>G
XR_928102.1:n.722+5173T>G
XM_005249962.4:c.2038+75A>C XP_005250019.1:n.2038+75A>C
XM_005249963.4:c.2011+75A>C XP_005250020.1:n.2011+75A>C
XM_005249964.4:c.1885+75A>C XP_005250021.1:n.1885+75A>C
XM_011515883.2:c.2053+75A>C XP_011514185.1:n.2053+75A>C
XM_011515884.2:c.2029+75A>C XP_011514186.1:n.2029+75A>C
XM_011515885.2:c.2026+75A>C XP_011514187.1:n.2026+75A>C
XM_011515886.2:c.2005+75A>C XP_011514188.1:n.2005+75A>C
XM_011515887.3:c.2002+75A>C XP_011514189.1:n.2002+75A>C
XM_011515888.2:c.2002+75A>C XP_011514190.1:n.2002+75A>C
XM_011515889.2:c.1963+75A>C XP_011514191.1:n.1963+75A>C
XM_011515890.2:c.1936+75A>C XP_011514192.1:n.1936+75A>C
XM_011515891.3:c.1930+75A>C XP_011514193.1:n.1930+75A>C
XM_011515892.2:c.1927+75A>C XP_011514194.1:n.1927+75A>C
XM_011515893.2:c.1921+75A>C XP_011514195.1:n.1921+75A>C
XM_011515894.2:c.1912+75A>C XP_011514196.1:n.1912+75A>C
XM_011515895.2:c.1909+75A>C XP_011514197.1:n.1909+75A>C
XM_011515896.2:c.1795+75A>C XP_011514198.1:n.1795+75A>C
XM_011515897.2:c.1702+75A>C XP_011514199.1:n.1702+75A>C
XM_011515898.2:c.1702+75A>C XP_011514200.1:n.1702+75A>C
XM_017011817.2:c.2053+75A>C XP_016867306.1:n.2053+75A>C
XM_017011818.1:c.1990+75A>C XP_016867307.1:n.1990+75A>C
XM_017011819.1:c.1912+75A>C XP_016867308.1:n.1912+75A>C
XM_017011820.2:c.1885+75A>C XP_016867309.1:n.1885+75A>C
XM_017011821.1:c.1687+75A>C XP_016867310.1:n.1687+75A>C
XM_024446680.1:c.1915+75A>C XP_024302448.1:n.1915+75A>C
XR_001744581.1:n.4403+75A>C
XR_002956413.1:n.5059+75A>C
XR_002956414.1:n.5519+75A>C
NM_001203247.2:c.2014+75A>C NP_001190176.1:n.2014+75A>C
NM_001203248.2:c.1987+75A>C NP_001190177.1:n.1987+75A>C
NM_001203249.2:c.1861+75A>C NP_001190178.1:n.1861+75A>C
NM_004456.5:c.2029+75A>C MANE Select NP_004447.2:n.2029+75A>C
NM_152998.3:c.1897+75A>C NP_694543.1:n.1897+75A>C
Search 100 bp 5'
Search 100 bp 3'