Canonical Allele Identifier: CA834990620

Gene: EZH2

Linked Data

• dbSNP Id: rs1156597021
• gnomAD v3: 7-148810155-C-CTGCT
• gnomAD v4: 7-148810155-C-CTGCT
• MyVariant Identifiers: chr7:g.148507247_148507248insTGCT (hg19) ; chr7:g.148810155_148810156insTGCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.148810156_148810159dup , CM000669.2:g.148810156_148810159dup	GRCh38
NC_000007.13:g.148507248_148507251dup , CM000669.1:g.148507248_148507251dup	GRCh37
NC_000007.12:g.148138181_148138184dup	NCBI36
NG_032043.1:g.79191_79194dup , LRG_531:g.79191_79194dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000682263.1:n.3929+174_3929+177dup
ENST00000682317.1:c.*1091+174_*1091+177dup	ENSP00000508286.1:n.*1091+174_*1091+177dup
ENST00000683292.1:c.*925+174_*925+177dup	ENSP00000507503.1:n.*925+174_*925+177dup
ENST00000683293.1:n.3748+174_3748+177dup
ENST00000683744.1:c.*1091+174_*1091+177dup	ENSP00000506949.1:n.*1091+174_*1091+177dup
ENST00000684300.1:c.*1091+174_*1091+177dup	ENSP00000508407.1:n.*1091+174_*1091+177dup
ENST00000684400.1:n.3094_3097dup
ENST00000684436.1:n.2345+174_2345+177dup
ENST00000684510.1:n.2407+174_2407+177dup
ENST00000320356.7:c.2029+174_2029+177dup MANE Select	ENSP00000320147.2:n.2029+174_2029+177dup
ENST00000320356.6:c.2029+174_2029+177dup	ENSP00000320147.2:n.2029+174_2029+177dup
ENST00000350995.6:c.1897+174_1897+177dup	ENSP00000223193.2:n.1897+174_1897+177dup
ENST00000460911.5:c.2014+174_2014+177dup	ENSP00000419711.1:n.2014+174_2014+177dup
ENST00000476773.5:c.1861+174_1861+177dup	ENSP00000419050.1:n.1861+174_1861+177dup
ENST00000478654.5:c.1861+174_1861+177dup	ENSP00000417062.1:n.1861+174_1861+177dup
ENST00000483967.5:c.1987+174_1987+177dup	ENSP00000419856.1:n.1987+174_1987+177dup
ENST00000492143.5:c.*2019+174_*2019+177dup	ENSP00000417377.1:n.*2019+174_*2019+177dup
NM_001203247.1:c.2014+174_2014+177dup	NP_001190176.1:n.2014+174_2014+177dup
NM_001203248.1:c.1987+174_1987+177dup	NP_001190177.1:n.1987+174_1987+177dup
NM_001203249.1:c.1861+174_1861+177dup	NP_001190178.1:n.1861+174_1861+177dup
NM_004456.4:c.2029+174_2029+177dup , LRG_531t1:c.2029+174_2029+177dup	NP_004447.2:n.2029+174_2029+177dup
NM_152998.2:c.1897+174_1897+177dup	NP_694543.1:n.1897+174_1897+177dup
XM_005249962.3:c.2038+174_2038+177dup	XP_005250019.1:n.2038+174_2038+177dup
XM_005249963.3:c.2011+174_2011+177dup	XP_005250020.1:n.2011+174_2011+177dup
XM_005249964.3:c.1885+174_1885+177dup	XP_005250021.1:n.1885+174_1885+177dup
XM_011515883.1:c.2053+174_2053+177dup	XP_011514185.1:n.2053+174_2053+177dup
XM_011515884.1:c.2029+174_2029+177dup	XP_011514186.1:n.2029+174_2029+177dup
XM_011515885.1:c.2026+174_2026+177dup	XP_011514187.1:n.2026+174_2026+177dup
XM_011515886.1:c.2005+174_2005+177dup	XP_011514188.1:n.2005+174_2005+177dup
XM_011515887.1:c.2002+174_2002+177dup	XP_011514189.1:n.2002+174_2002+177dup
XM_011515888.1:c.2002+174_2002+177dup	XP_011514190.1:n.2002+174_2002+177dup
XM_011515889.1:c.1963+174_1963+177dup	XP_011514191.1:n.1963+174_1963+177dup
XM_011515890.1:c.1936+174_1936+177dup	XP_011514192.1:n.1936+174_1936+177dup
XM_011515891.1:c.1930+174_1930+177dup	XP_011514193.1:n.1930+174_1930+177dup
XM_011515892.1:c.1927+174_1927+177dup	XP_011514194.1:n.1927+174_1927+177dup
XM_011515893.1:c.1921+174_1921+177dup	XP_011514195.1:n.1921+174_1921+177dup
XM_011515894.1:c.1912+174_1912+177dup	XP_011514196.1:n.1912+174_1912+177dup
XM_011515895.1:c.1909+174_1909+177dup	XP_011514197.1:n.1909+174_1909+177dup
XM_011515896.1:c.1795+174_1795+177dup	XP_011514198.1:n.1795+174_1795+177dup
XM_011515897.1:c.1702+174_1702+177dup	XP_011514199.1:n.1702+174_1702+177dup
XM_011515898.1:c.1702+174_1702+177dup	XP_011514200.1:n.1702+174_1702+177dup
XR_928101.1:n.515+5071_515+5074dup
XR_928102.1:n.722+5071_722+5074dup
XM_005249962.4:c.2038+174_2038+177dup	XP_005250019.1:n.2038+174_2038+177dup
XM_005249963.4:c.2011+174_2011+177dup	XP_005250020.1:n.2011+174_2011+177dup
XM_005249964.4:c.1885+174_1885+177dup	XP_005250021.1:n.1885+174_1885+177dup
XM_011515883.2:c.2053+174_2053+177dup	XP_011514185.1:n.2053+174_2053+177dup
XM_011515884.2:c.2029+174_2029+177dup	XP_011514186.1:n.2029+174_2029+177dup
XM_011515885.2:c.2026+174_2026+177dup	XP_011514187.1:n.2026+174_2026+177dup
XM_011515886.2:c.2005+174_2005+177dup	XP_011514188.1:n.2005+174_2005+177dup
XM_011515887.3:c.2002+174_2002+177dup	XP_011514189.1:n.2002+174_2002+177dup
XM_011515888.2:c.2002+174_2002+177dup	XP_011514190.1:n.2002+174_2002+177dup
XM_011515889.2:c.1963+174_1963+177dup	XP_011514191.1:n.1963+174_1963+177dup
XM_011515890.2:c.1936+174_1936+177dup	XP_011514192.1:n.1936+174_1936+177dup
XM_011515891.3:c.1930+174_1930+177dup	XP_011514193.1:n.1930+174_1930+177dup
XM_011515892.2:c.1927+174_1927+177dup	XP_011514194.1:n.1927+174_1927+177dup
XM_011515893.2:c.1921+174_1921+177dup	XP_011514195.1:n.1921+174_1921+177dup
XM_011515894.2:c.1912+174_1912+177dup	XP_011514196.1:n.1912+174_1912+177dup
XM_011515895.2:c.1909+174_1909+177dup	XP_011514197.1:n.1909+174_1909+177dup
XM_011515896.2:c.1795+174_1795+177dup	XP_011514198.1:n.1795+174_1795+177dup
XM_011515897.2:c.1702+174_1702+177dup	XP_011514199.1:n.1702+174_1702+177dup
XM_011515898.2:c.1702+174_1702+177dup	XP_011514200.1:n.1702+174_1702+177dup
XM_017011817.2:c.2053+174_2053+177dup	XP_016867306.1:n.2053+174_2053+177dup
XM_017011818.1:c.1990+174_1990+177dup	XP_016867307.1:n.1990+174_1990+177dup
XM_017011819.1:c.1912+174_1912+177dup	XP_016867308.1:n.1912+174_1912+177dup
XM_017011820.2:c.1885+174_1885+177dup	XP_016867309.1:n.1885+174_1885+177dup
XM_017011821.1:c.1687+174_1687+177dup	XP_016867310.1:n.1687+174_1687+177dup
XM_024446680.1:c.1915+174_1915+177dup	XP_024302448.1:n.1915+174_1915+177dup
XR_001744581.1:n.4403+174_4403+177dup
XR_002956413.1:n.5059+174_5059+177dup
XR_002956414.1:n.5519+174_5519+177dup
NM_001203247.2:c.2014+174_2014+177dup	NP_001190176.1:n.2014+174_2014+177dup
NM_001203248.2:c.1987+174_1987+177dup	NP_001190177.1:n.1987+174_1987+177dup
NM_001203249.2:c.1861+174_1861+177dup	NP_001190178.1:n.1861+174_1861+177dup
NM_004456.5:c.2029+174_2029+177dup MANE Select	NP_004447.2:n.2029+174_2029+177dup
NM_152998.3:c.1897+174_1897+177dup	NP_694543.1:n.1897+174_1897+177dup