Canonical Allele Identifier: CA1751423401
Gene: EZH2 HGNC NCBI

Linked Data

dbSNP Id: rs1802910663

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.148811006_148811007dup , CM000669.2:g.148811006_148811007dup GRCh38
NC_000007.13:g.148508098_148508099dup , CM000669.1:g.148508098_148508099dup GRCh37
NC_000007.12:g.148139031_148139032dup NCBI36
NG_032043.1:g.78343_78344dup , LRG_531:g.78343_78344dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000682263.1:n.3848-593_3848-592dup
ENST00000682317.1:c.*1010-593_*1010-592dup ENSP00000508286.1:n.*1010-593_*1010-592dup
ENST00000683292.1:c.*844-593_*844-592dup ENSP00000507503.1:n.*844-593_*844-592dup
ENST00000683293.1:n.3667-593_3667-592dup
ENST00000683744.1:c.*1010-593_*1010-592dup ENSP00000506949.1:n.*1010-593_*1010-592dup
ENST00000684300.1:c.*1010-593_*1010-592dup ENSP00000508407.1:n.*1010-593_*1010-592dup
ENST00000684400.1:n.2839-593_2839-592dup
ENST00000684436.1:n.2264-593_2264-592dup
ENST00000684510.1:n.2326-593_2326-592dup
ENST00000320356.7:c.1948-593_1948-592dup MANE Select ENSP00000320147.2:n.1948-593_1948-592dup
ENST00000320356.6:c.1948-593_1948-592dup ENSP00000320147.2:n.1948-593_1948-592dup
ENST00000350995.6:c.1816-593_1816-592dup ENSP00000223193.2:n.1816-593_1816-592dup
ENST00000460911.5:c.1933-593_1933-592dup ENSP00000419711.1:n.1933-593_1933-592dup
ENST00000469631.1:n.200-593_200-592dup
ENST00000476773.5:c.1780-593_1780-592dup ENSP00000419050.1:n.1780-593_1780-592dup
ENST00000478654.5:c.1780-593_1780-592dup ENSP00000417062.1:n.1780-593_1780-592dup
ENST00000483967.5:c.1906-593_1906-592dup ENSP00000419856.1:n.1906-593_1906-592dup
ENST00000492143.5:c.*1938-593_*1938-592dup ENSP00000417377.1:n.*1938-593_*1938-592dup
NM_001203247.1:c.1933-593_1933-592dup NP_001190176.1:n.1933-593_1933-592dup
NM_001203248.1:c.1906-593_1906-592dup NP_001190177.1:n.1906-593_1906-592dup
NM_001203249.1:c.1780-593_1780-592dup NP_001190178.1:n.1780-593_1780-592dup
NM_004456.4:c.1948-593_1948-592dup , LRG_531t1:c.1948-593_1948-592dup NP_004447.2:n.1948-593_1948-592dup
NM_152998.2:c.1816-593_1816-592dup NP_694543.1:n.1816-593_1816-592dup
XM_005249962.3:c.1957-593_1957-592dup XP_005250019.1:n.1957-593_1957-592dup
XM_005249963.3:c.1930-593_1930-592dup XP_005250020.1:n.1930-593_1930-592dup
XM_005249964.3:c.1804-593_1804-592dup XP_005250021.1:n.1804-593_1804-592dup
XM_011515883.1:c.1972-593_1972-592dup XP_011514185.1:n.1972-593_1972-592dup
XM_011515884.1:c.1948-593_1948-592dup XP_011514186.1:n.1948-593_1948-592dup
XM_011515885.1:c.1945-593_1945-592dup XP_011514187.1:n.1945-593_1945-592dup
XM_011515886.1:c.1924-593_1924-592dup XP_011514188.1:n.1924-593_1924-592dup
XM_011515887.1:c.1921-593_1921-592dup XP_011514189.1:n.1921-593_1921-592dup
XM_011515888.1:c.1921-593_1921-592dup XP_011514190.1:n.1921-593_1921-592dup
XM_011515889.1:c.1882-593_1882-592dup XP_011514191.1:n.1882-593_1882-592dup
XM_011515890.1:c.1855-593_1855-592dup XP_011514192.1:n.1855-593_1855-592dup
XM_011515891.1:c.1849-593_1849-592dup XP_011514193.1:n.1849-593_1849-592dup
XM_011515892.1:c.1846-593_1846-592dup XP_011514194.1:n.1846-593_1846-592dup
XM_011515893.1:c.1840-593_1840-592dup XP_011514195.1:n.1840-593_1840-592dup
XM_011515894.1:c.1831-593_1831-592dup XP_011514196.1:n.1831-593_1831-592dup
XM_011515895.1:c.1828-593_1828-592dup XP_011514197.1:n.1828-593_1828-592dup
XM_011515896.1:c.1714-593_1714-592dup XP_011514198.1:n.1714-593_1714-592dup
XM_011515897.1:c.1621-593_1621-592dup XP_011514199.1:n.1621-593_1621-592dup
XM_011515898.1:c.1621-593_1621-592dup XP_011514200.1:n.1621-593_1621-592dup
XR_928101.1:n.515+5921_515+5922dup
XR_928102.1:n.722+5921_722+5922dup
XM_005249962.4:c.1957-593_1957-592dup XP_005250019.1:n.1957-593_1957-592dup
XM_005249963.4:c.1930-593_1930-592dup XP_005250020.1:n.1930-593_1930-592dup
XM_005249964.4:c.1804-593_1804-592dup XP_005250021.1:n.1804-593_1804-592dup
XM_011515883.2:c.1972-593_1972-592dup XP_011514185.1:n.1972-593_1972-592dup
XM_011515884.2:c.1948-593_1948-592dup XP_011514186.1:n.1948-593_1948-592dup
XM_011515885.2:c.1945-593_1945-592dup XP_011514187.1:n.1945-593_1945-592dup
XM_011515886.2:c.1924-593_1924-592dup XP_011514188.1:n.1924-593_1924-592dup
XM_011515887.3:c.1921-593_1921-592dup XP_011514189.1:n.1921-593_1921-592dup
XM_011515888.2:c.1921-593_1921-592dup XP_011514190.1:n.1921-593_1921-592dup
XM_011515889.2:c.1882-593_1882-592dup XP_011514191.1:n.1882-593_1882-592dup
XM_011515890.2:c.1855-593_1855-592dup XP_011514192.1:n.1855-593_1855-592dup
XM_011515891.3:c.1849-593_1849-592dup XP_011514193.1:n.1849-593_1849-592dup
XM_011515892.2:c.1846-593_1846-592dup XP_011514194.1:n.1846-593_1846-592dup
XM_011515893.2:c.1840-593_1840-592dup XP_011514195.1:n.1840-593_1840-592dup
XM_011515894.2:c.1831-593_1831-592dup XP_011514196.1:n.1831-593_1831-592dup
XM_011515895.2:c.1828-593_1828-592dup XP_011514197.1:n.1828-593_1828-592dup
XM_011515896.2:c.1714-593_1714-592dup XP_011514198.1:n.1714-593_1714-592dup
XM_011515897.2:c.1621-593_1621-592dup XP_011514199.1:n.1621-593_1621-592dup
XM_011515898.2:c.1621-593_1621-592dup XP_011514200.1:n.1621-593_1621-592dup
XM_017011817.2:c.1972-593_1972-592dup XP_016867306.1:n.1972-593_1972-592dup
XM_017011818.1:c.1909-593_1909-592dup XP_016867307.1:n.1909-593_1909-592dup
XM_017011819.1:c.1831-593_1831-592dup XP_016867308.1:n.1831-593_1831-592dup
XM_017011820.2:c.1804-593_1804-592dup XP_016867309.1:n.1804-593_1804-592dup
XM_017011821.1:c.1606-593_1606-592dup XP_016867310.1:n.1606-593_1606-592dup
XM_024446680.1:c.1834-593_1834-592dup XP_024302448.1:n.1834-593_1834-592dup
XR_001744581.1:n.4322-593_4322-592dup
XR_002956413.1:n.4978-593_4978-592dup
XR_002956414.1:n.5438-593_5438-592dup
NM_001203247.2:c.1933-593_1933-592dup NP_001190176.1:n.1933-593_1933-592dup
NM_001203248.2:c.1906-593_1906-592dup NP_001190177.1:n.1906-593_1906-592dup
NM_001203249.2:c.1780-593_1780-592dup NP_001190178.1:n.1780-593_1780-592dup
NM_004456.5:c.1948-593_1948-592dup MANE Select NP_004447.2:n.1948-593_1948-592dup
NM_152998.3:c.1816-593_1816-592dup NP_694543.1:n.1816-593_1816-592dup