Canonical Allele Identifier: CA1225085493
Gene: PSEN2 HGNC NCBI

Linked Data

dbSNP Id: rs1662126476

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.226895978del , CM000663.2:g.226895978del GRCh38
NC_000001.10:g.227083679del , CM000663.1:g.227083679del GRCh37
NC_000001.9:g.225150302del NCBI36
NG_007381.1:g.30407del
NG_012825.2:g.3443del
NG_007381.2:g.30795del

Transcript Alleles

HGVS Amino-acid Change
ENST00000366779.6:c.*399del ENSP00000355741.2:n.*399del
ENST00000366782.6:c.*399del ENSP00000355746.2:n.*399del
ENST00000366783.8:c.*399del MANE Select ENSP00000355747.3:n.*399del
ENST00000471728.2:n.2384del
ENST00000524196.6:c.*399del ENSP00000429036.2:n.*399del
ENST00000626989.3:c.*399del ENSP00000486498.2:n.*399del
ENST00000676467.1:c.*1573del ENSP00000504294.1:n.*1573del
ENST00000676747.1:c.1189-1742del ENSP00000503244.1:n.1189-1742del
ENST00000676884.1:c.*399del ENSP00000503200.1:n.*399del
ENST00000676888.1:c.*1087del ENSP00000504483.1:n.*1087del
ENST00000676907.1:c.*1325del ENSP00000504410.1:n.*1325del
ENST00000676945.1:c.1191+1853del ENSP00000504433.1:n.1191+1853del
ENST00000677065.1:n.2307del
ENST00000677414.1:c.*399del ENSP00000503116.1:n.*399del
ENST00000677529.1:n.3476del
ENST00000677596.1:c.*1968del ENSP00000503618.1:n.*1968del
ENST00000677599.1:c.1191+1853del ENSP00000503673.1:n.1191+1853del
ENST00000677748.1:n.4001del
ENST00000677880.1:c.*399del ENSP00000503121.1:n.*399del
ENST00000678021.1:c.*1369del ENSP00000504674.1:n.*1369del
ENST00000678233.1:c.*8+391del ENSP00000504728.1:n.*8+391del
ENST00000678320.1:c.*399del ENSP00000503680.1:n.*399del
ENST00000678655.1:c.1093-1742del ENSP00000504230.1:n.1093-1742del
ENST00000678706.1:c.*1123del ENSP00000503659.1:n.*1123del
ENST00000678776.1:c.*1883del ENSP00000504624.1:n.*1883del
ENST00000678784.1:c.1073-1742del ENSP00000504652.1:n.1073-1742del
ENST00000678820.1:c.1090-1742del ENSP00000504138.1:n.1090-1742del
ENST00000678835.1:c.*757-1742del ENSP00000504343.1:n.*757-1742del
ENST00000679088.1:c.*399del ENSP00000504727.1:n.*399del
ENST00000679098.1:c.*8+391del ENSP00000504303.1:n.*8+391del
ENST00000366782.5:c.*399del ENSP00000355746.1:n.*399del
ENST00000366783.7:c.*399del ENSP00000355747.3:n.*399del
ENST00000626989.2:c.1845del ENSP00000486498.1:n.1845del
NM_000447.2:c.*399del NP_000438.2:n.*399del
NM_012486.2:c.*399del NP_036618.2:n.*399del
XM_005273199.2:c.*399del XP_005273256.1:n.*399del
XM_011544236.1:c.*399del XP_011542538.1:n.*399del
XM_005273199.4:c.*399del XP_005273256.1:n.*399del
XM_017001835.1:c.*399del XP_016857324.1:n.*399del
XM_017001836.1:c.*399del XP_016857325.1:n.*399del
XR_001737316.2:n.1478-1742del
XR_001737317.2:n.1478-1742del
XR_001737318.2:n.2461del
XR_001737319.1:n.2804del
XR_001737320.1:n.2801del
XR_001737321.1:n.2296del
XR_949149.2:n.2458del
XR_949150.3:n.2677del
NM_000447.3:c.*399del MANE Select NP_000438.2:n.*399del
NM_012486.3:c.*399del NP_036618.2:n.*399del