Canonical Allele Identifier: CA1225085294
Gene: PSEN2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.226895515_226895518delinsTCTC , CM000663.2:g.226895515_226895518delinsTCTC GRCh38
NC_000001.10:g.227083216_227083219delinsTCTC , CM000663.1:g.227083216_227083219delinsTCTC GRCh37
NC_000001.9:g.225149839_225149842delinsTCTC NCBI36
NG_007381.1:g.29944_29947delinsTCTC
NG_012825.2:g.2980_2983delinsTCTC
NG_007381.2:g.30332_30335delinsTCTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000366779.6:c.1283_1286delinsTCTC ENSP00000355741.2:p.Phe428=
ENST00000366782.6:c.1283_1286delinsTCTC ENSP00000355746.2:p.Phe428=
ENST00000366783.8:c.1283_1286delinsTCTC MANE Select ENSP00000355747.3:p.Phe428=
ENST00000471728.2:n.1921_1924delinsTCTC
ENST00000524196.6:c.1283_1286delinsTCTC ENSP00000429036.2:p.Phe428=
ENST00000626989.3:c.1283_1286delinsTCTC ENSP00000486498.2:p.Phe428=
ENST00000676467.1:c.*1110_*1113delinsTCTC ENSP00000504294.1:n.*1110_*1113delinsTCTC
ENST00000676747.1:c.1188+1390_1188+1393delinsTCTC ENSP00000503244.1:n.1188+1390_1188+1393delinsTCTC
ENST00000676884.1:c.1283_1286delinsTCTC ENSP00000503200.1:p.Phe428=
ENST00000676888.1:c.*624_*627delinsTCTC ENSP00000504483.1:n.*624_*627delinsTCTC
ENST00000676907.1:c.*862_*865delinsTCTC ENSP00000504410.1:n.*862_*865delinsTCTC
ENST00000676945.1:c.1191+1390_1191+1393delinsTCTC ENSP00000504433.1:n.1191+1390_1191+1393delinsTCTC
ENST00000677065.1:n.1844_1847delinsTCTC
ENST00000677414.1:c.1283_1286delinsTCTC ENSP00000503116.1:p.Phe428=
ENST00000677529.1:n.3013_3016delinsTCTC
ENST00000677596.1:c.*1505_*1508delinsTCTC ENSP00000503618.1:n.*1505_*1508delinsTCTC
ENST00000677599.1:c.1191+1390_1191+1393delinsTCTC ENSP00000503673.1:n.1191+1390_1191+1393delinsTCTC
ENST00000677748.1:n.3538_3541delinsTCTC
ENST00000677880.1:c.848_851delinsTCTC ENSP00000503121.1:p.Phe283=
ENST00000678021.1:c.*906_*909delinsTCTC ENSP00000504674.1:n.*906_*909delinsTCTC
ENST00000678233.1:c.1283_1286delinsTCTC ENSP00000504728.1:p.Phe428=
ENST00000678320.1:c.1184_1187delinsTCTC ENSP00000503680.1:p.Phe395=
ENST00000678655.1:c.1092+1390_1092+1393delinsTCTC ENSP00000504230.1:n.1092+1390_1092+1393delinsTCTC
ENST00000678706.1:c.*660_*663delinsTCTC ENSP00000503659.1:n.*660_*663delinsTCTC
ENST00000678776.1:c.*1420_*1423delinsTCTC ENSP00000504624.1:n.*1420_*1423delinsTCTC
ENST00000678784.1:c.1073-2205_1073-2202delinsTCTC ENSP00000504652.1:n.1073-2205_1073-2202delinsTCTC
ENST00000678820.1:c.1089+1390_1089+1393delinsTCTC ENSP00000504138.1:n.1089+1390_1089+1393delinsTCTC
ENST00000678835.1:c.*757-2205_*757-2202delinsTCTC ENSP00000504343.1:n.*757-2205_*757-2202delinsTCTC
ENST00000679088.1:c.1283_1286delinsTCTC ENSP00000504727.1:p.Phe428=
ENST00000679098.1:c.1283_1286delinsTCTC ENSP00000504303.1:p.Phe428=
ENST00000366782.5:c.1382_1385delinsTCTC ENSP00000355746.1:p.Phe461=
ENST00000366783.7:c.1283_1286delinsTCTC ENSP00000355747.3:p.Phe428=
ENST00000422240.6:c.1280_1283delinsTCTC ENSP00000403737.2:p.Phe427=
ENST00000471728.1:n.541_544delinsTCTC
ENST00000472139.2:c.851_854delinsTCTC ENSP00000427806.1:p.Phe284=
ENST00000626989.2:c.1382_1385delinsTCTC ENSP00000486498.1:p.Phe461=
NM_000447.2:c.1283_1286delinsTCTC NP_000438.2:p.Phe428=
NM_012486.2:c.1280_1283delinsTCTC NP_036618.2:p.Phe427=
XM_005273199.2:c.1283_1286delinsTCTC XP_005273256.1:p.Phe428=
XM_011544236.1:c.851_854delinsTCTC XP_011542538.1:p.Phe284=
XR_949149.1:n.2017_2020delinsTCTC
XM_005273199.4:c.1283_1286delinsTCTC XP_005273256.1:p.Phe428=
XM_017001835.1:c.1283_1286delinsTCTC XP_016857324.1:p.Phe428=
XM_017001836.1:c.1280_1283delinsTCTC XP_016857325.1:p.Phe427=
XR_001737316.2:n.1478-2205_1478-2202delinsTCTC
XR_001737317.2:n.1478-2205_1478-2202delinsTCTC
XR_001737318.2:n.1998_2001delinsTCTC
XR_001737319.1:n.2341_2344delinsTCTC
XR_001737320.1:n.2338_2341delinsTCTC
XR_001737321.1:n.1833_1836delinsTCTC
XR_949149.2:n.1995_1998delinsTCTC
XR_949150.3:n.2214_2217delinsTCTC
NM_000447.3:c.1283_1286delinsTCTC MANE Select NP_000438.2:p.Phe428=
NM_012486.3:c.1280_1283delinsTCTC NP_036618.2:p.Phe427=