Canonical Allele Identifier: CA4548205
Gene: EZH2 HGNC NCBI
gnomAD v2:
7:148543693 TAA / T
gnomAD v3:
7:148846601 TAA / T
gnomAD v4:
chr7-148846601-TAA-T
Joint Max Group AF 0.00229844 (AMR)
Genomes Max Group AF 0.00002862 (NFE)
Exomes Max Group AF 0.00322338 (AMR)
ClinVar RCV:
RCV000399985
RCV003422353
ClinVar Variation:
359288
dbSNP:
3214332
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.148846611_148846612del , CM000669.2:g.148846611_148846612del GRCh38
NC_000007.13:g.148543703_148543704del , CM000669.1:g.148543703_148543704del GRCh37
NC_000007.12:g.148174636_148174637del NCBI36
NG_032043.1:g.42747_42748del , LRG_531:g.42747_42748del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682263.1:n.266-5_266-4del
ENST00000682317.1:c.118-5_118-4del ENSP00000508286.1:n.118-5_118-4del
ENST00000683292.1:c.-81-13853_-81-13852del ENSP00000507503.1:n.-81-13853_-81-13852del
ENST00000683744.1:c.118-5_118-4del ENSP00000506949.1:n.118-5_118-4del
ENST00000684300.1:c.118-5_118-4del ENSP00000508407.1:n.118-5_118-4del
ENST00000320356.7:c.118-5_118-4del MANE Select ENSP00000320147.2:n.118-5_118-4del
ENST00000320356.6:c.118-5_118-4del ENSP00000320147.2:n.118-5_118-4del
ENST00000350995.6:c.118-5_118-4del ENSP00000223193.2:n.118-5_118-4del
ENST00000460911.5:c.118-5_118-4del ENSP00000419711.1:n.118-5_118-4del
ENST00000476773.5:c.118-5_118-4del ENSP00000419050.1:n.118-5_118-4del
ENST00000478654.5:c.118-5_118-4del ENSP00000417062.1:n.118-5_118-4del
ENST00000483012.1:c.118-5_118-4del ENSP00000417704.1:n.118-5_118-4del
ENST00000483967.5:c.118-5_118-4del ENSP00000419856.1:n.118-5_118-4del
ENST00000492143.5:c.118-5_118-4del ENSP00000417377.1:n.118-5_118-4del
ENST00000498186.5:n.249-5_249-4del
NM_001203247.1:c.118-5_118-4del NP_001190176.1:n.118-5_118-4del
NM_001203248.1:c.118-5_118-4del NP_001190177.1:n.118-5_118-4del
NM_001203249.1:c.118-5_118-4del NP_001190178.1:n.118-5_118-4del
NM_004456.4:c.118-5_118-4del , LRG_531t1:c.118-5_118-4del NP_004447.2:n.118-5_118-4del
NM_152998.2:c.118-5_118-4del NP_694543.1:n.118-5_118-4del
XM_005249962.3:c.142-5_142-4del XP_005250019.1:n.142-5_142-4del
XM_005249963.3:c.142-5_142-4del XP_005250020.1:n.142-5_142-4del
XM_005249964.3:c.142-5_142-4del XP_005250021.1:n.142-5_142-4del
XM_011515883.1:c.142-5_142-4del XP_011514185.1:n.142-5_142-4del
XM_011515884.1:c.118-5_118-4del XP_011514186.1:n.118-5_118-4del
XM_011515885.1:c.142-5_142-4del XP_011514187.1:n.142-5_142-4del
XM_011515886.1:c.-59-5_-59-4del XP_011514188.1:n.-59-5_-59-4del
XM_011515887.1:c.118-5_118-4del XP_011514189.1:n.118-5_118-4del
XM_011515888.1:c.118-5_118-4del XP_011514190.1:n.118-5_118-4del
XM_011515889.1:c.-59-5_-59-4del XP_011514191.1:n.-59-5_-59-4del
XM_011515890.1:c.142-5_142-4del XP_011514192.1:n.142-5_142-4del
XM_011515891.1:c.148-13853_148-13852del XP_011514193.1:n.148-13853_148-13852del
XM_011515892.1:c.142-5_142-4del XP_011514194.1:n.142-5_142-4del
XM_011515893.1:c.142-5_142-4del XP_011514195.1:n.142-5_142-4del
XM_011515894.1:c.118-5_118-4del XP_011514196.1:n.118-5_118-4del
XM_011515895.1:c.142-5_142-4del XP_011514197.1:n.142-5_142-4del
XM_011515896.1:c.142-5_142-4del XP_011514198.1:n.142-5_142-4del
XM_011515897.1:c.-389-5_-389-4del XP_011514199.1:n.-389-5_-389-4del
XM_011515898.1:c.-347-5_-347-4del XP_011514200.1:n.-347-5_-347-4del
XM_011515899.1:c.142-5_142-4del XP_011514201.1:n.142-5_142-4del
XM_011515900.1:c.142-5_142-4del XP_011514202.1:n.142-5_142-4del
XM_011515901.1:c.142-5_142-4del XP_011514203.1:n.142-5_142-4del
XM_011515902.1:c.142-5_142-4del XP_011514204.1:n.142-5_142-4del
XM_005249962.4:c.142-5_142-4del XP_005250019.1:n.142-5_142-4del
XM_005249963.4:c.142-5_142-4del XP_005250020.1:n.142-5_142-4del
XM_005249964.4:c.142-5_142-4del XP_005250021.1:n.142-5_142-4del
XM_011515883.2:c.142-5_142-4del XP_011514185.1:n.142-5_142-4del
XM_011515884.2:c.118-5_118-4del XP_011514186.1:n.118-5_118-4del
XM_011515885.2:c.142-5_142-4del XP_011514187.1:n.142-5_142-4del
XM_011515886.2:c.-59-5_-59-4del XP_011514188.1:n.-59-5_-59-4del
XM_011515887.3:c.118-5_118-4del XP_011514189.1:n.118-5_118-4del
XM_011515888.2:c.118-5_118-4del XP_011514190.1:n.118-5_118-4del
XM_011515889.2:c.-59-5_-59-4del XP_011514191.1:n.-59-5_-59-4del
XM_011515890.2:c.142-5_142-4del XP_011514192.1:n.142-5_142-4del
XM_011515891.3:c.148-13853_148-13852del XP_011514193.1:n.148-13853_148-13852del
XM_011515892.2:c.142-5_142-4del XP_011514194.1:n.142-5_142-4del
XM_011515893.2:c.142-5_142-4del XP_011514195.1:n.142-5_142-4del
XM_011515894.2:c.118-5_118-4del XP_011514196.1:n.118-5_118-4del
XM_011515895.2:c.142-5_142-4del XP_011514197.1:n.142-5_142-4del
XM_011515896.2:c.142-5_142-4del XP_011514198.1:n.142-5_142-4del
XM_011515897.2:c.-389-5_-389-4del XP_011514199.1:n.-389-5_-389-4del
XM_011515898.2:c.-347-5_-347-4del XP_011514200.1:n.-347-5_-347-4del
XM_011515899.3:c.142-5_142-4del XP_011514201.1:n.142-5_142-4del
XM_011515901.3:c.142-5_142-4del XP_011514203.1:n.142-5_142-4del
XM_017011817.2:c.142-5_142-4del XP_016867306.1:n.142-5_142-4del
XM_017011818.1:c.-59-5_-59-4del XP_016867307.1:n.-59-5_-59-4del
XM_017011819.1:c.142-5_142-4del XP_016867308.1:n.142-5_142-4del
XM_017011820.2:c.118-5_118-4del XP_016867309.1:n.118-5_118-4del
XM_017011821.1:c.-389-5_-389-4del XP_016867310.1:n.-389-5_-389-4del
XM_024446680.1:c.148-13853_148-13852del XP_024302448.1:n.148-13853_148-13852del
XR_001744581.1:n.2757-5_2757-4del
XR_002956413.1:n.2755-5_2755-4del
XR_002956414.1:n.2757-5_2757-4del
NM_001203247.2:c.118-5_118-4del NP_001190176.1:n.118-5_118-4del
NM_001203248.2:c.118-5_118-4del NP_001190177.1:n.118-5_118-4del
NM_001203249.2:c.118-5_118-4del NP_001190178.1:n.118-5_118-4del
NM_004456.5:c.118-5_118-4del MANE Select NP_004447.2:n.118-5_118-4del
NM_152998.3:c.118-5_118-4del NP_694543.1:n.118-5_118-4del
Search 100 bp 5'
Search 100 bp 3'