Canonical Allele Identifier: CA1225084578
Gene: PSEN2 HGNC NCBI

Linked Data

dbSNP Id: rs1661925064
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.226893920_226893921insGGCTGGGCCGGGCAAGAGC , CM000663.2:g.226893920_226893921insGGCTGGGCCGGGCAAGAGC GRCh38
NC_000001.10:g.227081621_227081622insGGCTGGGCCGGGCAAGAGC , CM000663.1:g.227081621_227081622insGGCTGGGCCGGGCAAGAGC GRCh37
NC_000001.9:g.225148244_225148245insGGCTGGGCCGGGCAAGAGC NCBI36
NG_007381.1:g.28349_28350insGGCTGGGCCGGGCAAGAGC
NG_012825.2:g.1385_1386insGGCTGGGCCGGGCAAGAGC
NG_007381.2:g.28737_28738insGGCTGGGCCGGGCAAGAGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000366779.6:c.1073-87_1073-86insGGCTGGGCCGGGCAAGAGC ENSP00000355741.2:n.1073-87_1073-86insGGCTGGGCCGGGCAAGAGC
ENST00000366782.6:c.1073-87_1073-86insGGCTGGGCCGGGCAAGAGC ENSP00000355746.2:n.1073-87_1073-86insGGCTGGGCCGGGCAAGAGC
ENST00000366783.8:c.1073-87_1073-86insGGCTGGGCCGGGCAAGAGC MANE Select ENSP00000355747.3:n.1073-87_1073-86insGGCTGGGCCGGGCAAGAGC
ENST00000471728.2:n.1711-87_1711-86insGGCTGGGCCGGGCAAGAGC
ENST00000524196.6:c.1073-87_1073-86insGGCTGGGCCGGGCAAGAGC ENSP00000429036.2:n.1073-87_1073-86insGGCTGGGCCGGGCAAGAGC
ENST00000626989.3:c.1073-87_1073-86insGGCTGGGCCGGGCAAGAGC ENSP00000486498.2:n.1073-87_1073-86insGGCTGGGCCGGGCAAGAGC
ENST00000676467.1:c.*900-87_*900-86insGGCTGGGCCGGGCAAGAGC ENSP00000504294.1:n.*900-87_*900-86insGGCTGGGCCGGGCAAGAGC
ENST00000676747.1:c.1070-87_1070-86insGGCTGGGCCGGGCAAGAGC ENSP00000503244.1:n.1070-87_1070-86insGGCTGGGCCGGGCAAGAGC
ENST00000676884.1:c.1073-87_1073-86insGGCTGGGCCGGGCAAGAGC ENSP00000503200.1:n.1073-87_1073-86insGGCTGGGCCGGGCAAGAGC
ENST00000676888.1:c.*414-87_*414-86insGGCTGGGCCGGGCAAGAGC ENSP00000504483.1:n.*414-87_*414-86insGGCTGGGCCGGGCAAGAGC
ENST00000676907.1:c.*652-87_*652-86insGGCTGGGCCGGGCAAGAGC ENSP00000504410.1:n.*652-87_*652-86insGGCTGGGCCGGGCAAGAGC
ENST00000676945.1:c.1073-87_1073-86insGGCTGGGCCGGGCAAGAGC ENSP00000504433.1:n.1073-87_1073-86insGGCTGGGCCGGGCAAGAGC
ENST00000677065.1:n.1634-87_1634-86insGGCTGGGCCGGGCAAGAGC
ENST00000677414.1:c.1073-87_1073-86insGGCTGGGCCGGGCAAGAGC ENSP00000503116.1:n.1073-87_1073-86insGGCTGGGCCGGGCAAGAGC
ENST00000677529.1:n.2803-87_2803-86insGGCTGGGCCGGGCAAGAGC
ENST00000677596.1:c.*1295-87_*1295-86insGGCTGGGCCGGGCAAGAGC ENSP00000503618.1:n.*1295-87_*1295-86insGGCTGGGCCGGGCAAGAGC
ENST00000677599.1:c.1073-87_1073-86insGGCTGGGCCGGGCAAGAGC ENSP00000503673.1:n.1073-87_1073-86insGGCTGGGCCGGGCAAGAGC
ENST00000677748.1:n.3328-87_3328-86insGGCTGGGCCGGGCAAGAGC
ENST00000677880.1:c.638-87_638-86insGGCTGGGCCGGGCAAGAGC ENSP00000503121.1:n.638-87_638-86insGGCTGGGCCGGGCAAGAGC
ENST00000678021.1:c.*696-87_*696-86insGGCTGGGCCGGGCAAGAGC ENSP00000504674.1:n.*696-87_*696-86insGGCTGGGCCGGGCAAGAGC
ENST00000678233.1:c.1073-87_1073-86insGGCTGGGCCGGGCAAGAGC ENSP00000504728.1:n.1073-87_1073-86insGGCTGGGCCGGGCAAGAGC
ENST00000678320.1:c.974-87_974-86insGGCTGGGCCGGGCAAGAGC ENSP00000503680.1:n.974-87_974-86insGGCTGGGCCGGGCAAGAGC
ENST00000678655.1:c.974-87_974-86insGGCTGGGCCGGGCAAGAGC ENSP00000504230.1:n.974-87_974-86insGGCTGGGCCGGGCAAGAGC
ENST00000678706.1:c.*450-87_*450-86insGGCTGGGCCGGGCAAGAGC ENSP00000503659.1:n.*450-87_*450-86insGGCTGGGCCGGGCAAGAGC
ENST00000678776.1:c.*1210-87_*1210-86insGGCTGGGCCGGGCAAGAGC ENSP00000504624.1:n.*1210-87_*1210-86insGGCTGGGCCGGGCAAGAGC
ENST00000678784.1:c.1072+2076_1072+2077insGGCTGGGCCGGGCAAGAGC ENSP00000504652.1:n.1072+2076_1072+2077insGGCTGGGCCGGGCAAGAGC...
ENST00000678820.1:c.971-87_971-86insGGCTGGGCCGGGCAAGAGC ENSP00000504138.1:n.971-87_971-86insGGCTGGGCCGGGCAAGAGC
ENST00000678835.1:c.*756+2076_*756+2077insGGCTGGGCCGGGCAAGAGC ENSP00000504343.1:n.*756+2076_*756+2077insGGCTGGGCCGGGCAAGAGC...
ENST00000679088.1:c.1073-87_1073-86insGGCTGGGCCGGGCAAGAGC ENSP00000504727.1:n.1073-87_1073-86insGGCTGGGCCGGGCAAGAGC
ENST00000679098.1:c.1073-87_1073-86insGGCTGGGCCGGGCAAGAGC ENSP00000504303.1:n.1073-87_1073-86insGGCTGGGCCGGGCAAGAGC
ENST00000366782.5:c.1172-87_1172-86insGGCTGGGCCGGGCAAGAGC ENSP00000355746.1:n.1172-87_1172-86insGGCTGGGCCGGGCAAGAGC
ENST00000366783.7:c.1073-87_1073-86insGGCTGGGCCGGGCAAGAGC ENSP00000355747.3:n.1073-87_1073-86insGGCTGGGCCGGGCAAGAGC
ENST00000422240.6:c.1070-87_1070-86insGGCTGGGCCGGGCAAGAGC ENSP00000403737.2:n.1070-87_1070-86insGGCTGGGCCGGGCAAGAGC
ENST00000471728.1:n.331-87_331-86insGGCTGGGCCGGGCAAGAGC
ENST00000472139.2:c.641-87_641-86insGGCTGGGCCGGGCAAGAGC ENSP00000427806.1:n.641-87_641-86insGGCTGGGCCGGGCAAGAGC
ENST00000626989.2:c.1172-87_1172-86insGGCTGGGCCGGGCAAGAGC ENSP00000486498.1:n.1172-87_1172-86insGGCTGGGCCGGGCAAGAGC
NM_000447.2:c.1073-87_1073-86insGGCTGGGCCGGGCAAGAGC NP_000438.2:n.1073-87_1073-86insGGCTGGGCCGGGCAAGAGC
NM_012486.2:c.1070-87_1070-86insGGCTGGGCCGGGCAAGAGC NP_036618.2:n.1070-87_1070-86insGGCTGGGCCGGGCAAGAGC
XM_005273199.2:c.1073-87_1073-86insGGCTGGGCCGGGCAAGAGC XP_005273256.1:n.1073-87_1073-86insGGCTGGGCCGGGCAAGAGC
XM_011544236.1:c.641-87_641-86insGGCTGGGCCGGGCAAGAGC XP_011542538.1:n.641-87_641-86insGGCTGGGCCGGGCAAGAGC
XR_949149.1:n.1807-87_1807-86insGGCTGGGCCGGGCAAGAGC
XM_005273199.4:c.1073-87_1073-86insGGCTGGGCCGGGCAAGAGC XP_005273256.1:n.1073-87_1073-86insGGCTGGGCCGGGCAAGAGC
XM_017001835.1:c.1073-87_1073-86insGGCTGGGCCGGGCAAGAGC XP_016857324.1:n.1073-87_1073-86insGGCTGGGCCGGGCAAGAGC
XM_017001836.1:c.1070-87_1070-86insGGCTGGGCCGGGCAAGAGC XP_016857325.1:n.1070-87_1070-86insGGCTGGGCCGGGCAAGAGC
XR_001737316.2:n.1477+2076_1477+2077insGGCTGGGCCGGGCAAGAGC
XR_001737317.2:n.1477+2076_1477+2077insGGCTGGGCCGGGCAAGAGC
XR_001737318.2:n.1788-87_1788-86insGGCTGGGCCGGGCAAGAGC
XR_001737319.1:n.2131-87_2131-86insGGCTGGGCCGGGCAAGAGC
XR_001737320.1:n.2128-87_2128-86insGGCTGGGCCGGGCAAGAGC
XR_001737321.1:n.1623-87_1623-86insGGCTGGGCCGGGCAAGAGC
XR_949149.2:n.1785-87_1785-86insGGCTGGGCCGGGCAAGAGC
XR_949150.3:n.2004-87_2004-86insGGCTGGGCCGGGCAAGAGC
NM_000447.3:c.1073-87_1073-86insGGCTGGGCCGGGCAAGAGC MANE Select NP_000438.2:n.1073-87_1073-86insGGCTGGGCCGGGCAAGAGC
NM_012486.3:c.1070-87_1070-86insGGCTGGGCCGGGCAAGAGC NP_036618.2:n.1070-87_1070-86insGGCTGGGCCGGGCAAGAGC
Search 100 bp 5'
Search 100 bp 3'