Canonical Allele Identifier: CA345044132
Gene: PSEN2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.226894093A>G , CM000663.2:g.226894093A>G GRCh38
NC_000001.10:g.227081794A>G , CM000663.1:g.227081794A>G GRCh37
NC_000001.9:g.225148417A>G NCBI36
NG_007381.1:g.28522A>G
NG_012825.2:g.1558A>G
NG_007381.2:g.28910A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000366779.6:c.1159A>G ENSP00000355741.2:p.Thr387Ala
ENST00000366782.6:c.1159A>G ENSP00000355746.2:p.Thr387Ala
ENST00000366783.8:c.1159A>G MANE Select ENSP00000355747.3:p.Thr387Ala
ENST00000471728.2:n.1797A>G
ENST00000524196.6:c.1159A>G ENSP00000429036.2:p.Thr387Ala
ENST00000626989.3:c.1159A>G ENSP00000486498.2:p.Thr387Ala
ENST00000676467.1:c.*986A>G ENSP00000504294.1:n.*986A>G
ENST00000676747.1:c.1156A>G ENSP00000503244.1:p.Thr386Ala
ENST00000676884.1:c.1159A>G ENSP00000503200.1:p.Thr387Ala
ENST00000676888.1:c.*500A>G ENSP00000504483.1:n.*500A>G
ENST00000676907.1:c.*738A>G ENSP00000504410.1:n.*738A>G
ENST00000676945.1:c.1159A>G ENSP00000504433.1:p.Thr387Ala
ENST00000677065.1:n.1720A>G
ENST00000677414.1:c.1159A>G ENSP00000503116.1:p.Thr387Ala
ENST00000677529.1:n.2889A>G
ENST00000677596.1:c.*1381A>G ENSP00000503618.1:n.*1381A>G
ENST00000677599.1:c.1159A>G ENSP00000503673.1:p.Thr387Ala
ENST00000677748.1:n.3414A>G
ENST00000677880.1:c.724A>G ENSP00000503121.1:p.Thr242Ala
ENST00000678021.1:c.*782A>G ENSP00000504674.1:n.*782A>G
ENST00000678233.1:c.1159A>G ENSP00000504728.1:p.Thr387Ala
ENST00000678320.1:c.1060A>G ENSP00000503680.1:p.Thr354Ala
ENST00000678655.1:c.1060A>G ENSP00000504230.1:p.Thr354Ala
ENST00000678706.1:c.*536A>G ENSP00000503659.1:n.*536A>G
ENST00000678776.1:c.*1296A>G ENSP00000504624.1:n.*1296A>G
ENST00000678784.1:c.1072+2249A>G ENSP00000504652.1:n.1072+2249A>G
ENST00000678820.1:c.1057A>G ENSP00000504138.1:p.Thr353Ala
ENST00000678835.1:c.*756+2249A>G ENSP00000504343.1:n.*756+2249A>G
ENST00000679088.1:c.1159A>G ENSP00000504727.1:p.Thr387Ala
ENST00000679098.1:c.1159A>G ENSP00000504303.1:p.Thr387Ala
ENST00000366782.5:c.1258A>G ENSP00000355746.1:p.Thr420Ala
ENST00000366783.7:c.1159A>G ENSP00000355747.3:p.Thr387Ala
ENST00000422240.6:c.1156A>G ENSP00000403737.2:p.Thr386Ala
ENST00000471728.1:n.417A>G
ENST00000472139.2:c.727A>G ENSP00000427806.1:p.Thr243Ala
ENST00000626989.2:c.1258A>G ENSP00000486498.1:p.Thr420Ala
NM_000447.2:c.1159A>G NP_000438.2:p.Thr387Ala
NM_012486.2:c.1156A>G NP_036618.2:p.Thr386Ala
XM_005273199.2:c.1159A>G XP_005273256.1:p.Thr387Ala
XM_011544236.1:c.727A>G XP_011542538.1:p.Thr243Ala
XR_949149.1:n.1893A>G
XM_005273199.4:c.1159A>G XP_005273256.1:p.Thr387Ala
XM_017001835.1:c.1159A>G XP_016857324.1:p.Thr387Ala
XM_017001836.1:c.1156A>G XP_016857325.1:p.Thr386Ala
XR_001737316.2:n.1477+2249A>G
XR_001737317.2:n.1477+2249A>G
XR_001737318.2:n.1874A>G
XR_001737319.1:n.2217A>G
XR_001737320.1:n.2214A>G
XR_001737321.1:n.1709A>G
XR_949149.2:n.1871A>G
XR_949150.3:n.2090A>G
NM_000447.3:c.1159A>G MANE Select NP_000438.2:p.Thr387Ala
NM_012486.3:c.1156A>G NP_036618.2:p.Thr386Ala