Canonical Allele Identifier: CA891843193

Gene: EZH2

Linked Data

• ClinVar Variation Id: 577229
• ClinVar RCV Id: RCV000699921
• dbSNP Id: rs1563181659
• MyVariant Identifiers: chr7:g.148504774_148504776dup (hg19) ; chr7:g.148807682_148807684dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.148807683_148807685dup , CM000669.2:g.148807683_148807685dup	GRCh38
NC_000007.13:g.148504775_148504777dup , CM000669.1:g.148504775_148504777dup	GRCh37
NC_000007.12:g.148135708_148135710dup	NCBI36
NG_032043.1:g.81666_81668dup , LRG_531:g.81666_81668dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682263.1:n.4118_4120dup
ENST00000682317.1:c.*1280_*1282dup	ENSP00000508286.1:n.*1280_*1282dup
ENST00000683292.1:c.*1114_*1116dup	ENSP00000507503.1:n.*1114_*1116dup
ENST00000683293.1:n.3937_3939dup
ENST00000683744.1:c.*1280_*1282dup	ENSP00000506949.1:n.*1280_*1282dup
ENST00000684300.1:c.*1280_*1282dup	ENSP00000508407.1:n.*1280_*1282dup
ENST00000684400.1:n.4205_4207dup
ENST00000684436.1:n.2534_2536dup
ENST00000684510.1:n.2596_2598dup
ENST00000320356.7:c.2218_2220dup MANE Select	ENSP00000320147.2:p.Lys740_Tyr741insLys
ENST00000320356.6:c.2218_2220dup	ENSP00000320147.2:p.Lys740_Tyr741insLys
ENST00000350995.6:c.2086_2088dup	ENSP00000223193.2:p.Lys696_Tyr697insLys
ENST00000460911.5:c.2203_2205dup	ENSP00000419711.1:p.Lys735_Tyr736insLys
ENST00000476773.5:c.2050_2052dup	ENSP00000419050.1:p.Lys684_Tyr685insLys
ENST00000478654.5:c.2050_2052dup	ENSP00000417062.1:p.Lys684_Tyr685insLys
ENST00000483967.5:c.2176_2178dup	ENSP00000419856.1:p.Lys726_Tyr727insLys
ENST00000492143.5:c.*2208_*2210dup	ENSP00000417377.1:n.*2208_*2210dup
NM_001203247.1:c.2203_2205dup	NP_001190176.1:p.Lys735_Tyr736insLys
NM_001203248.1:c.2176_2178dup	NP_001190177.1:p.Lys726_Tyr727insLys
NM_001203249.1:c.2050_2052dup	NP_001190178.1:p.Lys684_Tyr685insLys
NM_004456.4:c.2218_2220dup , LRG_531t1:c.2218_2220dup	NP_004447.2:p.Lys740_Tyr741insLys
NM_152998.2:c.2086_2088dup	NP_694543.1:p.Lys696_Tyr697insLys
XM_005249962.3:c.2227_2229dup	XP_005250019.1:p.Lys743_Tyr744insLys
XM_005249963.3:c.2200_2202dup	XP_005250020.1:p.Lys734_Tyr735insLys
XM_005249964.3:c.2074_2076dup	XP_005250021.1:p.Lys692_Tyr693insLys
XM_011515883.1:c.2242_2244dup	XP_011514185.1:p.Lys748_Tyr749insLys
XM_011515884.1:c.2218_2220dup	XP_011514186.1:p.Lys740_Tyr741insLys
XM_011515885.1:c.2215_2217dup	XP_011514187.1:p.Lys739_Tyr740insLys
XM_011515886.1:c.2194_2196dup	XP_011514188.1:p.Lys732_Tyr733insLys
XM_011515887.1:c.2191_2193dup	XP_011514189.1:p.Lys731_Tyr732insLys
XM_011515888.1:c.2191_2193dup	XP_011514190.1:p.Lys731_Tyr732insLys
XM_011515889.1:c.2152_2154dup	XP_011514191.1:p.Lys718_Tyr719insLys
XM_011515890.1:c.2125_2127dup	XP_011514192.1:p.Lys709_Tyr710insLys
XM_011515891.1:c.2119_2121dup	XP_011514193.1:p.Lys707_Tyr708insLys
XM_011515892.1:c.2116_2118dup	XP_011514194.1:p.Lys706_Tyr707insLys
XM_011515893.1:c.2110_2112dup	XP_011514195.1:p.Lys704_Tyr705insLys
XM_011515894.1:c.2101_2103dup	XP_011514196.1:p.Lys701_Tyr702insLys
XM_011515895.1:c.2098_2100dup	XP_011514197.1:p.Lys700_Tyr701insLys
XM_011515896.1:c.1984_1986dup	XP_011514198.1:p.Lys662_Tyr663insLys
XM_011515897.1:c.1891_1893dup	XP_011514199.1:p.Lys631_Tyr632insLys
XM_011515898.1:c.1891_1893dup	XP_011514200.1:p.Lys631_Tyr632insLys
XR_928101.1:n.515+2598_515+2600dup
XR_928102.1:n.722+2598_722+2600dup
XM_005249962.4:c.2227_2229dup	XP_005250019.1:p.Lys743_Tyr744insLys
XM_005249963.4:c.2200_2202dup	XP_005250020.1:p.Lys734_Tyr735insLys
XM_005249964.4:c.2074_2076dup	XP_005250021.1:p.Lys692_Tyr693insLys
XM_011515883.2:c.2242_2244dup	XP_011514185.1:p.Lys748_Tyr749insLys
XM_011515884.2:c.2218_2220dup	XP_011514186.1:p.Lys740_Tyr741insLys
XM_011515885.2:c.2215_2217dup	XP_011514187.1:p.Lys739_Tyr740insLys
XM_011515886.2:c.2194_2196dup	XP_011514188.1:p.Lys732_Tyr733insLys
XM_011515887.3:c.2191_2193dup	XP_011514189.1:p.Lys731_Tyr732insLys
XM_011515888.2:c.2191_2193dup	XP_011514190.1:p.Lys731_Tyr732insLys
XM_011515889.2:c.2152_2154dup	XP_011514191.1:p.Lys718_Tyr719insLys
XM_011515890.2:c.2125_2127dup	XP_011514192.1:p.Lys709_Tyr710insLys
XM_011515891.3:c.2119_2121dup	XP_011514193.1:p.Lys707_Tyr708insLys
XM_011515892.2:c.2116_2118dup	XP_011514194.1:p.Lys706_Tyr707insLys
XM_011515893.2:c.2110_2112dup	XP_011514195.1:p.Lys704_Tyr705insLys
XM_011515894.2:c.2101_2103dup	XP_011514196.1:p.Lys701_Tyr702insLys
XM_011515895.2:c.2098_2100dup	XP_011514197.1:p.Lys700_Tyr701insLys
XM_011515896.2:c.1984_1986dup	XP_011514198.1:p.Lys662_Tyr663insLys
XM_011515897.2:c.1891_1893dup	XP_011514199.1:p.Lys631_Tyr632insLys
XM_011515898.2:c.1891_1893dup	XP_011514200.1:p.Lys631_Tyr632insLys
XM_017011817.2:c.2242_2244dup	XP_016867306.1:p.Lys748_Tyr749insLys
XM_017011818.1:c.2179_2181dup	XP_016867307.1:p.Lys727_Tyr728insLys
XM_017011819.1:c.2101_2103dup	XP_016867308.1:p.Lys701_Tyr702insLys
XM_017011820.2:c.2074_2076dup	XP_016867309.1:p.Lys692_Tyr693insLys
XM_017011821.1:c.1876_1878dup	XP_016867310.1:p.Lys626_Tyr627insLys
XM_024446680.1:c.2104_2106dup	XP_024302448.1:p.Lys702_Tyr703insLys
XR_001744581.1:n.4592_4594dup
XR_002956413.1:n.5248_5250dup
XR_002956414.1:n.5708_5710dup
NM_001203247.2:c.2203_2205dup	NP_001190176.1:p.Lys735_Tyr736insLys
NM_001203248.2:c.2176_2178dup	NP_001190177.1:p.Lys726_Tyr727insLys
NM_001203249.2:c.2050_2052dup	NP_001190178.1:p.Lys684_Tyr685insLys
NM_004456.5:c.2218_2220dup MANE Select	NP_004447.2:p.Lys740_Tyr741insLys
NM_152998.3:c.2086_2088dup	NP_694543.1:p.Lys696_Tyr697insLys