Canonical Allele Identifier: CA1751423464

Gene: EZH2

Linked Data

• dbSNP Id: rs1802929573

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.148811056_148811060del , CM000669.2:g.148811056_148811060del	GRCh38
NC_000007.13:g.148508148_148508152del , CM000669.1:g.148508148_148508152del	GRCh37
NC_000007.12:g.148139081_148139085del	NCBI36
NG_032043.1:g.78291_78295del , LRG_531:g.78291_78295del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682263.1:n.3847+566_3847+570del
ENST00000682317.1:c.*1009+566_*1009+570del	ENSP00000508286.1:n.*1009+566_*1009+570del
ENST00000683292.1:c.*843+566_*843+570del	ENSP00000507503.1:n.*843+566_*843+570del
ENST00000683293.1:n.3666+566_3666+570del
ENST00000683744.1:c.*1009+566_*1009+570del	ENSP00000506949.1:n.*1009+566_*1009+570del
ENST00000684300.1:c.*1009+566_*1009+570del	ENSP00000508407.1:n.*1009+566_*1009+570del
ENST00000684400.1:n.2838+566_2838+570del
ENST00000684436.1:n.2263+566_2263+570del
ENST00000684510.1:n.2325+566_2325+570del
ENST00000320356.7:c.1947+566_1947+570del MANE Select	ENSP00000320147.2:n.1947+566_1947+570del
ENST00000320356.6:c.1947+566_1947+570del	ENSP00000320147.2:n.1947+566_1947+570del
ENST00000350995.6:c.1815+566_1815+570del	ENSP00000223193.2:n.1815+566_1815+570del
ENST00000460911.5:c.1932+566_1932+570del	ENSP00000419711.1:n.1932+566_1932+570del
ENST00000469631.1:n.199+566_199+570del
ENST00000476773.5:c.1779+566_1779+570del	ENSP00000419050.1:n.1779+566_1779+570del
ENST00000478654.5:c.1779+566_1779+570del	ENSP00000417062.1:n.1779+566_1779+570del
ENST00000483967.5:c.1905+566_1905+570del	ENSP00000419856.1:n.1905+566_1905+570del
ENST00000492143.5:c.*1937+566_*1937+570del	ENSP00000417377.1:n.*1937+566_*1937+570del
NM_001203247.1:c.1932+566_1932+570del	NP_001190176.1:n.1932+566_1932+570del
NM_001203248.1:c.1905+566_1905+570del	NP_001190177.1:n.1905+566_1905+570del
NM_001203249.1:c.1779+566_1779+570del	NP_001190178.1:n.1779+566_1779+570del
NM_004456.4:c.1947+566_1947+570del , LRG_531t1:c.1947+566_1947+570del	NP_004447.2:n.1947+566_1947+570del
NM_152998.2:c.1815+566_1815+570del	NP_694543.1:n.1815+566_1815+570del
XM_005249962.3:c.1956+566_1956+570del	XP_005250019.1:n.1956+566_1956+570del
XM_005249963.3:c.1929+566_1929+570del	XP_005250020.1:n.1929+566_1929+570del
XM_005249964.3:c.1803+566_1803+570del	XP_005250021.1:n.1803+566_1803+570del
XM_011515883.1:c.1971+566_1971+570del	XP_011514185.1:n.1971+566_1971+570del
XM_011515884.1:c.1947+566_1947+570del	XP_011514186.1:n.1947+566_1947+570del
XM_011515885.1:c.1944+566_1944+570del	XP_011514187.1:n.1944+566_1944+570del
XM_011515886.1:c.1923+566_1923+570del	XP_011514188.1:n.1923+566_1923+570del
XM_011515887.1:c.1920+566_1920+570del	XP_011514189.1:n.1920+566_1920+570del
XM_011515888.1:c.1920+566_1920+570del	XP_011514190.1:n.1920+566_1920+570del
XM_011515889.1:c.1881+566_1881+570del	XP_011514191.1:n.1881+566_1881+570del
XM_011515890.1:c.1854+566_1854+570del	XP_011514192.1:n.1854+566_1854+570del
XM_011515891.1:c.1848+566_1848+570del	XP_011514193.1:n.1848+566_1848+570del
XM_011515892.1:c.1845+566_1845+570del	XP_011514194.1:n.1845+566_1845+570del
XM_011515893.1:c.1839+566_1839+570del	XP_011514195.1:n.1839+566_1839+570del
XM_011515894.1:c.1830+566_1830+570del	XP_011514196.1:n.1830+566_1830+570del
XM_011515895.1:c.1827+566_1827+570del	XP_011514197.1:n.1827+566_1827+570del
XM_011515896.1:c.1713+566_1713+570del	XP_011514198.1:n.1713+566_1713+570del
XM_011515897.1:c.1620+566_1620+570del	XP_011514199.1:n.1620+566_1620+570del
XM_011515898.1:c.1620+566_1620+570del	XP_011514200.1:n.1620+566_1620+570del
XR_928101.1:n.515+5971_515+5975del
XR_928102.1:n.722+5971_722+5975del
XM_005249962.4:c.1956+566_1956+570del	XP_005250019.1:n.1956+566_1956+570del
XM_005249963.4:c.1929+566_1929+570del	XP_005250020.1:n.1929+566_1929+570del
XM_005249964.4:c.1803+566_1803+570del	XP_005250021.1:n.1803+566_1803+570del
XM_011515883.2:c.1971+566_1971+570del	XP_011514185.1:n.1971+566_1971+570del
XM_011515884.2:c.1947+566_1947+570del	XP_011514186.1:n.1947+566_1947+570del
XM_011515885.2:c.1944+566_1944+570del	XP_011514187.1:n.1944+566_1944+570del
XM_011515886.2:c.1923+566_1923+570del	XP_011514188.1:n.1923+566_1923+570del
XM_011515887.3:c.1920+566_1920+570del	XP_011514189.1:n.1920+566_1920+570del
XM_011515888.2:c.1920+566_1920+570del	XP_011514190.1:n.1920+566_1920+570del
XM_011515889.2:c.1881+566_1881+570del	XP_011514191.1:n.1881+566_1881+570del
XM_011515890.2:c.1854+566_1854+570del	XP_011514192.1:n.1854+566_1854+570del
XM_011515891.3:c.1848+566_1848+570del	XP_011514193.1:n.1848+566_1848+570del
XM_011515892.2:c.1845+566_1845+570del	XP_011514194.1:n.1845+566_1845+570del
XM_011515893.2:c.1839+566_1839+570del	XP_011514195.1:n.1839+566_1839+570del
XM_011515894.2:c.1830+566_1830+570del	XP_011514196.1:n.1830+566_1830+570del
XM_011515895.2:c.1827+566_1827+570del	XP_011514197.1:n.1827+566_1827+570del
XM_011515896.2:c.1713+566_1713+570del	XP_011514198.1:n.1713+566_1713+570del
XM_011515897.2:c.1620+566_1620+570del	XP_011514199.1:n.1620+566_1620+570del
XM_011515898.2:c.1620+566_1620+570del	XP_011514200.1:n.1620+566_1620+570del
XM_017011817.2:c.1971+566_1971+570del	XP_016867306.1:n.1971+566_1971+570del
XM_017011818.1:c.1908+566_1908+570del	XP_016867307.1:n.1908+566_1908+570del
XM_017011819.1:c.1830+566_1830+570del	XP_016867308.1:n.1830+566_1830+570del
XM_017011820.2:c.1803+566_1803+570del	XP_016867309.1:n.1803+566_1803+570del
XM_017011821.1:c.1605+566_1605+570del	XP_016867310.1:n.1605+566_1605+570del
XM_024446680.1:c.1833+566_1833+570del	XP_024302448.1:n.1833+566_1833+570del
XR_001744581.1:n.4321+566_4321+570del
XR_002956413.1:n.4977+566_4977+570del
XR_002956414.1:n.5437+566_5437+570del
NM_001203247.2:c.1932+566_1932+570del	NP_001190176.1:n.1932+566_1932+570del
NM_001203248.2:c.1905+566_1905+570del	NP_001190177.1:n.1905+566_1905+570del
NM_001203249.2:c.1779+566_1779+570del	NP_001190178.1:n.1779+566_1779+570del
NM_004456.5:c.1947+566_1947+570del MANE Select	NP_004447.2:n.1947+566_1947+570del
NM_152998.3:c.1815+566_1815+570del	NP_694543.1:n.1815+566_1815+570del