Canonical Allele Identifier: CA2778367058
Gene: EZH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.148807378_148807454dup , CM000669.2:g.148807378_148807454dup GRCh38
NC_000007.13:g.148504470_148504546dup , CM000669.1:g.148504470_148504546dup GRCh37
NC_000007.12:g.148135403_148135479dup NCBI36
NG_032043.1:g.81897_81973dup , LRG_531:g.81897_81973dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000683292.1:c.*1345_*1421dup ENSP00000507503.1:n.*1345_*1421dup
NM_001203247.1:c.*193_*269dup NP_001190176.1:n.*193_*269dup
NM_001203248.1:c.*193_*269dup NP_001190177.1:n.*193_*269dup
NM_001203249.1:c.*193_*269dup NP_001190178.1:n.*193_*269dup
NM_004456.4:c.*193_*269dup , LRG_531t1:c.*193_*269dup NP_004447.2:n.*193_*269dup
NM_152998.2:c.*193_*269dup NP_694543.1:n.*193_*269dup
XM_005249962.3:c.*193_*269dup XP_005250019.1:n.*193_*269dup
XM_005249963.3:c.*193_*269dup XP_005250020.1:n.*193_*269dup
XM_005249964.3:c.*193_*269dup XP_005250021.1:n.*193_*269dup
XM_011515883.1:c.*193_*269dup XP_011514185.1:n.*193_*269dup
XM_011515884.1:c.*193_*269dup XP_011514186.1:n.*193_*269dup
XM_011515885.1:c.*193_*269dup XP_011514187.1:n.*193_*269dup
XM_011515886.1:c.*193_*269dup XP_011514188.1:n.*193_*269dup
XM_011515887.1:c.*193_*269dup XP_011514189.1:n.*193_*269dup
XM_011515888.1:c.*193_*269dup XP_011514190.1:n.*193_*269dup
XM_011515889.1:c.*193_*269dup XP_011514191.1:n.*193_*269dup
XM_011515890.1:c.*193_*269dup XP_011514192.1:n.*193_*269dup
XM_011515891.1:c.*193_*269dup XP_011514193.1:n.*193_*269dup
XM_011515892.1:c.*193_*269dup XP_011514194.1:n.*193_*269dup
XM_011515893.1:c.*193_*269dup XP_011514195.1:n.*193_*269dup
XM_011515894.1:c.*193_*269dup XP_011514196.1:n.*193_*269dup
XM_011515895.1:c.*193_*269dup XP_011514197.1:n.*193_*269dup
XM_011515896.1:c.*193_*269dup XP_011514198.1:n.*193_*269dup
XM_011515897.1:c.*193_*269dup XP_011514199.1:n.*193_*269dup
XM_011515898.1:c.*193_*269dup XP_011514200.1:n.*193_*269dup
XR_928101.1:n.515+2293_515+2369dup
XR_928102.1:n.722+2293_722+2369dup
XR_002956413.1:n.5479_5555dup
XR_002956414.1:n.5939_6015dup