Canonical Allele Identifier: CA2518418153

Gene: EZH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.148811131_148811132del , CM000669.2:g.148811131_148811132del	GRCh38
NC_000007.13:g.148508223_148508224del , CM000669.1:g.148508223_148508224del	GRCh37
NC_000007.12:g.148139156_148139157del	NCBI36
NG_032043.1:g.78218_78219del , LRG_531:g.78218_78219del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682263.1:n.3847+493_3847+494del
ENST00000682317.1:c.*1009+493_*1009+494del	ENSP00000508286.1:n.*1009+493_*1009+494del
ENST00000683292.1:c.*843+493_*843+494del	ENSP00000507503.1:n.*843+493_*843+494del
ENST00000683293.1:n.3666+493_3666+494del
ENST00000683744.1:c.*1009+493_*1009+494del	ENSP00000506949.1:n.*1009+493_*1009+494del
ENST00000684300.1:c.*1009+493_*1009+494del	ENSP00000508407.1:n.*1009+493_*1009+494del
ENST00000684400.1:n.2838+493_2838+494del
ENST00000684436.1:n.2263+493_2263+494del
ENST00000684510.1:n.2325+493_2325+494del
ENST00000320356.7:c.1947+493_1947+494del MANE Select	ENSP00000320147.2:n.1947+493_1947+494del
ENST00000320356.6:c.1947+493_1947+494del	ENSP00000320147.2:n.1947+493_1947+494del
ENST00000350995.6:c.1815+493_1815+494del	ENSP00000223193.2:n.1815+493_1815+494del
ENST00000460911.5:c.1932+493_1932+494del	ENSP00000419711.1:n.1932+493_1932+494del
ENST00000469631.1:n.199+493_199+494del
ENST00000476773.5:c.1779+493_1779+494del	ENSP00000419050.1:n.1779+493_1779+494del
ENST00000478654.5:c.1779+493_1779+494del	ENSP00000417062.1:n.1779+493_1779+494del
ENST00000483967.5:c.1905+493_1905+494del	ENSP00000419856.1:n.1905+493_1905+494del
ENST00000492143.5:c.*1937+493_*1937+494del	ENSP00000417377.1:n.*1937+493_*1937+494del
NM_001203247.1:c.1932+493_1932+494del	NP_001190176.1:n.1932+493_1932+494del
NM_001203248.1:c.1905+493_1905+494del	NP_001190177.1:n.1905+493_1905+494del
NM_001203249.1:c.1779+493_1779+494del	NP_001190178.1:n.1779+493_1779+494del
NM_004456.4:c.1947+493_1947+494del , LRG_531t1:c.1947+493_1947+494del	NP_004447.2:n.1947+493_1947+494del
NM_152998.2:c.1815+493_1815+494del	NP_694543.1:n.1815+493_1815+494del
XM_005249962.3:c.1956+493_1956+494del	XP_005250019.1:n.1956+493_1956+494del
XM_005249963.3:c.1929+493_1929+494del	XP_005250020.1:n.1929+493_1929+494del
XM_005249964.3:c.1803+493_1803+494del	XP_005250021.1:n.1803+493_1803+494del
XM_011515883.1:c.1971+493_1971+494del	XP_011514185.1:n.1971+493_1971+494del
XM_011515884.1:c.1947+493_1947+494del	XP_011514186.1:n.1947+493_1947+494del
XM_011515885.1:c.1944+493_1944+494del	XP_011514187.1:n.1944+493_1944+494del
XM_011515886.1:c.1923+493_1923+494del	XP_011514188.1:n.1923+493_1923+494del
XM_011515887.1:c.1920+493_1920+494del	XP_011514189.1:n.1920+493_1920+494del
XM_011515888.1:c.1920+493_1920+494del	XP_011514190.1:n.1920+493_1920+494del
XM_011515889.1:c.1881+493_1881+494del	XP_011514191.1:n.1881+493_1881+494del
XM_011515890.1:c.1854+493_1854+494del	XP_011514192.1:n.1854+493_1854+494del
XM_011515891.1:c.1848+493_1848+494del	XP_011514193.1:n.1848+493_1848+494del
XM_011515892.1:c.1845+493_1845+494del	XP_011514194.1:n.1845+493_1845+494del
XM_011515893.1:c.1839+493_1839+494del	XP_011514195.1:n.1839+493_1839+494del
XM_011515894.1:c.1830+493_1830+494del	XP_011514196.1:n.1830+493_1830+494del
XM_011515895.1:c.1827+493_1827+494del	XP_011514197.1:n.1827+493_1827+494del
XM_011515896.1:c.1713+493_1713+494del	XP_011514198.1:n.1713+493_1713+494del
XM_011515897.1:c.1620+493_1620+494del	XP_011514199.1:n.1620+493_1620+494del
XM_011515898.1:c.1620+493_1620+494del	XP_011514200.1:n.1620+493_1620+494del
XR_928101.1:n.515+6046_515+6047del
XR_928102.1:n.722+6046_722+6047del
XM_005249962.4:c.1956+493_1956+494del	XP_005250019.1:n.1956+493_1956+494del
XM_005249963.4:c.1929+493_1929+494del	XP_005250020.1:n.1929+493_1929+494del
XM_005249964.4:c.1803+493_1803+494del	XP_005250021.1:n.1803+493_1803+494del
XM_011515883.2:c.1971+493_1971+494del	XP_011514185.1:n.1971+493_1971+494del
XM_011515884.2:c.1947+493_1947+494del	XP_011514186.1:n.1947+493_1947+494del
XM_011515885.2:c.1944+493_1944+494del	XP_011514187.1:n.1944+493_1944+494del
XM_011515886.2:c.1923+493_1923+494del	XP_011514188.1:n.1923+493_1923+494del
XM_011515887.3:c.1920+493_1920+494del	XP_011514189.1:n.1920+493_1920+494del
XM_011515888.2:c.1920+493_1920+494del	XP_011514190.1:n.1920+493_1920+494del
XM_011515889.2:c.1881+493_1881+494del	XP_011514191.1:n.1881+493_1881+494del
XM_011515890.2:c.1854+493_1854+494del	XP_011514192.1:n.1854+493_1854+494del
XM_011515891.3:c.1848+493_1848+494del	XP_011514193.1:n.1848+493_1848+494del
XM_011515892.2:c.1845+493_1845+494del	XP_011514194.1:n.1845+493_1845+494del
XM_011515893.2:c.1839+493_1839+494del	XP_011514195.1:n.1839+493_1839+494del
XM_011515894.2:c.1830+493_1830+494del	XP_011514196.1:n.1830+493_1830+494del
XM_011515895.2:c.1827+493_1827+494del	XP_011514197.1:n.1827+493_1827+494del
XM_011515896.2:c.1713+493_1713+494del	XP_011514198.1:n.1713+493_1713+494del
XM_011515897.2:c.1620+493_1620+494del	XP_011514199.1:n.1620+493_1620+494del
XM_011515898.2:c.1620+493_1620+494del	XP_011514200.1:n.1620+493_1620+494del
XM_017011817.2:c.1971+493_1971+494del	XP_016867306.1:n.1971+493_1971+494del
XM_017011818.1:c.1908+493_1908+494del	XP_016867307.1:n.1908+493_1908+494del
XM_017011819.1:c.1830+493_1830+494del	XP_016867308.1:n.1830+493_1830+494del
XM_017011820.2:c.1803+493_1803+494del	XP_016867309.1:n.1803+493_1803+494del
XM_017011821.1:c.1605+493_1605+494del	XP_016867310.1:n.1605+493_1605+494del
XM_024446680.1:c.1833+493_1833+494del	XP_024302448.1:n.1833+493_1833+494del
XR_001744581.1:n.4321+493_4321+494del
XR_002956413.1:n.4977+493_4977+494del
XR_002956414.1:n.5437+493_5437+494del
NM_001203247.2:c.1932+493_1932+494del	NP_001190176.1:n.1932+493_1932+494del
NM_001203248.2:c.1905+493_1905+494del	NP_001190177.1:n.1905+493_1905+494del
NM_001203249.2:c.1779+493_1779+494del	NP_001190178.1:n.1779+493_1779+494del
NM_004456.5:c.1947+493_1947+494del MANE Select	NP_004447.2:n.1947+493_1947+494del
NM_152998.3:c.1815+493_1815+494del	NP_694543.1:n.1815+493_1815+494del