Canonical Allele Identifier: CA2740094948
Community Standard Title: NC_000007.14:g.148809153_148809160dup
Gene: EZH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.148809153_148809160dup , CM000669.2:g.148809153_148809160dup GRCh38
NC_000007.13:g.148506245_148506252dup , CM000669.1:g.148506245_148506252dup GRCh37
NC_000007.12:g.148137178_148137185dup NCBI36
NG_032043.1:g.80192_80199dup , LRG_531:g.80192_80199dup

Transcript Alleles

HGVS Amino-acid Change
NM_001203247.1:c.2096-3_2100dup
NM_001203247.2:c.2096-3_2100dup
NM_001203248.1:c.2069-3_2073dup
NM_001203248.2:c.2069-3_2073dup
NM_001203249.1:c.1943-3_1947dup
NM_001203249.2:c.1943-3_1947dup
NM_004456.4:c.2111-3_2115dup , LRG_531t1:c.2111-3_2115dup
NM_004456.5:c.2111-3_2115dup
NM_152998.2:c.1979-3_1983dup
NM_152998.3:c.1979-3_1983dup
ENST00000320356.6:c.2111-3_2115dup
ENST00000320356.7:c.2111-3_2115dup
ENST00000350995.6:c.1979-3_1983dup
ENST00000460911.5:c.2096-3_2100dup
ENST00000476773.5:c.1943-3_1947dup
ENST00000478654.5:c.1943-3_1947dup
ENST00000483967.5:c.2069-3_2073dup
ENST00000492143.5:c.*2101-3_*2105dup
ENST00000682263.1:n.4011-3_4015dup
ENST00000682317.1:c.*1173-3_*1177dup
ENST00000683292.1:c.*1007-3_*1011dup
ENST00000683293.1:n.3830-3_3834dup
ENST00000683744.1:c.*1173-3_*1177dup
ENST00000684300.1:c.*1173-3_*1177dup
ENST00000684400.1:n.4095_4102dup
ENST00000684436.1:n.2427-3_2431dup
ENST00000684510.1:n.2489-3_2493dup
XM_005249962.3:c.2120-3_2124dup
XM_005249962.4:c.2120-3_2124dup
XM_005249963.3:c.2093-3_2097dup
XM_005249963.4:c.2093-3_2097dup
XM_005249964.3:c.1967-3_1971dup
XM_005249964.4:c.1967-3_1971dup
XM_011515883.1:c.2135-3_2139dup
XM_011515883.2:c.2135-3_2139dup
XM_011515884.1:c.2111-3_2115dup
XM_011515884.2:c.2111-3_2115dup
XM_011515885.1:c.2108-3_2112dup
XM_011515885.2:c.2108-3_2112dup
XM_011515886.1:c.2087-3_2091dup
XM_011515886.2:c.2087-3_2091dup
XM_011515887.1:c.2084-3_2088dup
XM_011515887.3:c.2084-3_2088dup
XM_011515888.1:c.2084-3_2088dup
XM_011515888.2:c.2084-3_2088dup
XM_011515889.1:c.2045-3_2049dup
XM_011515889.2:c.2045-3_2049dup
XM_011515890.1:c.2018-3_2022dup
XM_011515890.2:c.2018-3_2022dup
XM_011515891.1:c.2012-3_2016dup
XM_011515891.3:c.2012-3_2016dup
XM_011515892.1:c.2009-3_2013dup
XM_011515892.2:c.2009-3_2013dup
XM_011515893.1:c.2003-3_2007dup
XM_011515893.2:c.2003-3_2007dup
XM_011515894.1:c.1994-3_1998dup
XM_011515894.2:c.1994-3_1998dup
XM_011515895.1:c.1991-3_1995dup
XM_011515895.2:c.1991-3_1995dup
XM_011515896.1:c.1877-3_1881dup
XM_011515896.2:c.1877-3_1881dup
XM_011515897.1:c.1784-3_1788dup
XM_011515897.2:c.1784-3_1788dup
XM_011515898.1:c.1784-3_1788dup
XM_011515898.2:c.1784-3_1788dup
XM_017011817.2:c.2135-3_2139dup
XM_017011818.1:c.2072-3_2076dup
XM_017011819.1:c.1994-3_1998dup
XM_017011820.2:c.1967-3_1971dup
XM_017011821.1:c.1769-3_1773dup
XM_024446680.1:c.1997-3_2001dup
XR_001744581.1:n.4485-3_4489dup
XR_002956413.1:n.5141-3_5145dup
XR_002956414.1:n.5601-3_5605dup
XR_928101.1:n.515+4068_515+4075dup
XR_928102.1:n.722+4068_722+4075dup