Canonical Allele Identifier: CA1225080925
Gene: PSEN2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.226886001_226886022delinsGACTACAGGTTTGCACCACCAT , CM000663.2:g.226886001_226886022delinsGACTACAGGTTTGCACCACCAT GRCh38
NC_000001.10:g.227073702_227073723delinsGACTACAGGTTTGCACCACCAT , CM000663.1:g.227073702_227073723delinsGACTACAGGTTTGCACCACCAT GRCh37
NC_000001.9:g.225140325_225140346delinsGACTACAGGTTTGCACCACCAT NCBI36
NG_007381.1:g.20430_20451delinsGACTACAGGTTTGCACCACCAT
NG_007381.2:g.20818_20839delinsGACTACAGGTTTGCACCACCAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000366779.6:c.498+322_498+343delinsGACTACAGGTTTGCACCACCAT ENSP00000355741.2:n.498+322_498+343delinsGACTACAGGTTTGCACCACC...
ENST00000366782.6:c.498+322_498+343delinsGACTACAGGTTTGCACCACCAT ENSP00000355746.2:n.498+322_498+343delinsGACTACAGGTTTGCACCACC...
ENST00000366783.8:c.498+322_498+343delinsGACTACAGGTTTGCACCACCAT MANE Select ENSP00000355747.3:n.498+322_498+343delinsGACTACAGGTTTGCACCACC...
ENST00000524196.6:c.498+322_498+343delinsGACTACAGGTTTGCACCACCAT ENSP00000429036.2:n.498+322_498+343delinsGACTACAGGTTTGCACCACC...
ENST00000626989.3:c.498+322_498+343delinsGACTACAGGTTTGCACCACCAT ENSP00000486498.2:n.498+322_498+343delinsGACTACAGGTTTGCACCACC...
ENST00000676467.1:c.*328+322_*328+343delinsGACTACAGGTTTGCACCACCAT ENSP00000504294.1:n.*328+322_*328+343delinsGACTACAGGTTTGCACCA...
ENST00000676747.1:c.498+322_498+343delinsGACTACAGGTTTGCACCACCAT ENSP00000503244.1:n.498+322_498+343delinsGACTACAGGTTTGCACCACC...
ENST00000676840.1:c.498+322_498+343delinsGACTACAGGTTTGCACCACCAT ENSP00000504318.1:n.498+322_498+343delinsGACTACAGGTTTGCACCACC...
ENST00000676884.1:c.498+322_498+343delinsGACTACAGGTTTGCACCACCAT ENSP00000503200.1:n.498+322_498+343delinsGACTACAGGTTTGCACCACC...
ENST00000676888.1:c.498+322_498+343delinsGACTACAGGTTTGCACCACCAT ENSP00000504483.1:n.498+322_498+343delinsGACTACAGGTTTGCACCACC...
ENST00000676907.1:c.*77+322_*77+343delinsGACTACAGGTTTGCACCACCAT ENSP00000504410.1:n.*77+322_*77+343delinsGACTACAGGTTTGCACCACC...
ENST00000676945.1:c.498+322_498+343delinsGACTACAGGTTTGCACCACCAT ENSP00000504433.1:n.498+322_498+343delinsGACTACAGGTTTGCACCACC...
ENST00000677065.1:n.1059+322_1059+343delinsGACTACAGGTTTGCACCACCAT
ENST00000677414.1:c.498+322_498+343delinsGACTACAGGTTTGCACCACCAT ENSP00000503116.1:n.498+322_498+343delinsGACTACAGGTTTGCACCACC...
ENST00000677529.1:n.936+322_936+343delinsGACTACAGGTTTGCACCACCAT
ENST00000677596.1:c.*405+322_*405+343delinsGACTACAGGTTTGCACCACCAT ENSP00000503618.1:n.*405+322_*405+343delinsGACTACAGGTTTGCACCA...
ENST00000677599.1:c.498+322_498+343delinsGACTACAGGTTTGCACCACCAT ENSP00000503673.1:n.498+322_498+343delinsGACTACAGGTTTGCACCACC...
ENST00000677748.1:n.936+322_936+343delinsGACTACAGGTTTGCACCACCAT
ENST00000677880.1:c.66+322_66+343delinsGACTACAGGTTTGCACCACCAT ENSP00000503121.1:n.66+322_66+343delinsGACTACAGGTTTGCACCACCAT...
ENST00000678021.1:c.*121+322_*121+343delinsGACTACAGGTTTGCACCACCAT ENSP00000504674.1:n.*121+322_*121+343delinsGACTACAGGTTTGCACCA...
ENST00000678233.1:c.498+322_498+343delinsGACTACAGGTTTGCACCACCAT ENSP00000504728.1:n.498+322_498+343delinsGACTACAGGTTTGCACCACC...
ENST00000678320.1:c.498+322_498+343delinsGACTACAGGTTTGCACCACCAT ENSP00000503680.1:n.498+322_498+343delinsGACTACAGGTTTGCACCACC...
ENST00000678655.1:c.498+322_498+343delinsGACTACAGGTTTGCACCACCAT ENSP00000504230.1:n.498+322_498+343delinsGACTACAGGTTTGCACCACC...
ENST00000678706.1:c.498+322_498+343delinsGACTACAGGTTTGCACCACCAT ENSP00000503659.1:n.498+322_498+343delinsGACTACAGGTTTGCACCACC...
ENST00000678776.1:c.*328+322_*328+343delinsGACTACAGGTTTGCACCACCAT ENSP00000504624.1:n.*328+322_*328+343delinsGACTACAGGTTTGCACCA...
ENST00000678784.1:c.498+322_498+343delinsGACTACAGGTTTGCACCACCAT ENSP00000504652.1:n.498+322_498+343delinsGACTACAGGTTTGCACCACC...
ENST00000678820.1:c.498+322_498+343delinsGACTACAGGTTTGCACCACCAT ENSP00000504138.1:n.498+322_498+343delinsGACTACAGGTTTGCACCACC...
ENST00000678835.1:c.498+322_498+343delinsGACTACAGGTTTGCACCACCAT ENSP00000504343.1:n.498+322_498+343delinsGACTACAGGTTTGCACCACC...
ENST00000679088.1:c.498+322_498+343delinsGACTACAGGTTTGCACCACCAT ENSP00000504727.1:n.498+322_498+343delinsGACTACAGGTTTGCACCACC...
ENST00000679098.1:c.498+322_498+343delinsGACTACAGGTTTGCACCACCAT ENSP00000504303.1:n.498+322_498+343delinsGACTACAGGTTTGCACCACC...
ENST00000366782.5:c.597+322_597+343delinsGACTACAGGTTTGCACCACCAT ENSP00000355746.1:n.597+322_597+343delinsGACTACAGGTTTGCACCACC...
ENST00000366783.7:c.498+322_498+343delinsGACTACAGGTTTGCACCACCAT ENSP00000355747.3:n.498+322_498+343delinsGACTACAGGTTTGCACCACC...
ENST00000422240.6:c.498+322_498+343delinsGACTACAGGTTTGCACCACCAT ENSP00000403737.2:n.498+322_498+343delinsGACTACAGGTTTGCACCACC...
ENST00000460775.5:c.-21-2090_-21-2069delinsGACTACAGGTTTGCACCACCAT ENSP00000427912.1:n.-21-2090_-21-2069delinsGACTACAGGTTTGCACCA...
ENST00000472139.2:c.66+322_66+343delinsGACTACAGGTTTGCACCACCAT ENSP00000427806.1:n.66+322_66+343delinsGACTACAGGTTTGCACCACCAT...
ENST00000626989.2:c.597+322_597+343delinsGACTACAGGTTTGCACCACCAT ENSP00000486498.1:n.597+322_597+343delinsGACTACAGGTTTGCACCACC...
NM_000447.2:c.498+322_498+343delinsGACTACAGGTTTGCACCACCAT NP_000438.2:n.498+322_498+343delinsGACTACAGGTTTGCACCACCAT
NM_012486.2:c.498+322_498+343delinsGACTACAGGTTTGCACCACCAT NP_036618.2:n.498+322_498+343delinsGACTACAGGTTTGCACCACCAT
XM_005273199.2:c.498+322_498+343delinsGACTACAGGTTTGCACCACCAT XP_005273256.1:n.498+322_498+343delinsGACTACAGGTTTGCACCACCAT
XM_011544236.1:c.66+322_66+343delinsGACTACAGGTTTGCACCACCAT XP_011542538.1:n.66+322_66+343delinsGACTACAGGTTTGCACCACCAT
XR_949149.1:n.925+322_925+343delinsGACTACAGGTTTGCACCACCAT
XR_949150.1:n.925+322_925+343delinsGACTACAGGTTTGCACCACCAT
XM_005273199.4:c.498+322_498+343delinsGACTACAGGTTTGCACCACCAT XP_005273256.1:n.498+322_498+343delinsGACTACAGGTTTGCACCACCAT
XM_017001835.1:c.498+322_498+343delinsGACTACAGGTTTGCACCACCAT XP_016857324.1:n.498+322_498+343delinsGACTACAGGTTTGCACCACCAT
XM_017001836.1:c.498+322_498+343delinsGACTACAGGTTTGCACCACCAT XP_016857325.1:n.498+322_498+343delinsGACTACAGGTTTGCACCACCAT
XR_001737316.2:n.903+322_903+343delinsGACTACAGGTTTGCACCACCAT
XR_001737317.2:n.903+322_903+343delinsGACTACAGGTTTGCACCACCAT
XR_001737318.2:n.903+322_903+343delinsGACTACAGGTTTGCACCACCAT
XR_001737319.1:n.1246+322_1246+343delinsGACTACAGGTTTGCACCACCAT
XR_001737320.1:n.1246+322_1246+343delinsGACTACAGGTTTGCACCACCAT
XR_001737321.1:n.738+322_738+343delinsGACTACAGGTTTGCACCACCAT
XR_949149.2:n.903+322_903+343delinsGACTACAGGTTTGCACCACCAT
XR_949150.3:n.903+322_903+343delinsGACTACAGGTTTGCACCACCAT
NM_000447.3:c.498+322_498+343delinsGACTACAGGTTTGCACCACCAT MANE Select NP_000438.2:n.498+322_498+343delinsGACTACAGGTTTGCACCACCAT
NM_012486.3:c.498+322_498+343delinsGACTACAGGTTTGCACCACCAT NP_036618.2:n.498+322_498+343delinsGACTACAGGTTTGCACCACCAT