Canonical Allele Identifier: CA1225085284
Gene: PSEN2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.226895492C= , CM000663.2:g.226895492C= GRCh38
NC_000001.10:g.227083193C= , CM000663.1:g.227083193C= GRCh37
NC_000001.9:g.225149816C= NCBI36
NG_007381.1:g.29921C=
NG_012825.2:g.2957C=
NG_007381.2:g.30309C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000366779.6:c.1260C= ENSP00000355741.2:p.Ile420=
ENST00000366782.6:c.1260C= ENSP00000355746.2:p.Ile420=
ENST00000366783.8:c.1260C= MANE Select ENSP00000355747.3:p.Ile420=
ENST00000471728.2:n.1898C=
ENST00000524196.6:c.1260C= ENSP00000429036.2:p.Ile420=
ENST00000626989.3:c.1260C= ENSP00000486498.2:p.Ile420=
ENST00000676467.1:c.*1087C= ENSP00000504294.1:n.*1087C=
ENST00000676747.1:c.1188+1367C= ENSP00000503244.1:n.1188+1367C=
ENST00000676884.1:c.1260C= ENSP00000503200.1:p.Ile420=
ENST00000676888.1:c.*601C= ENSP00000504483.1:n.*601C=
ENST00000676907.1:c.*839C= ENSP00000504410.1:n.*839C=
ENST00000676945.1:c.1191+1367C= ENSP00000504433.1:n.1191+1367C=
ENST00000677065.1:n.1821C=
ENST00000677414.1:c.1260C= ENSP00000503116.1:p.Ile420=
ENST00000677529.1:n.2990C=
ENST00000677596.1:c.*1482C= ENSP00000503618.1:n.*1482C=
ENST00000677599.1:c.1191+1367C= ENSP00000503673.1:n.1191+1367C=
ENST00000677748.1:n.3515C=
ENST00000677880.1:c.825C= ENSP00000503121.1:p.Ile275=
ENST00000678021.1:c.*883C= ENSP00000504674.1:n.*883C=
ENST00000678233.1:c.1260C= ENSP00000504728.1:p.Ile420=
ENST00000678320.1:c.1161C= ENSP00000503680.1:p.Ile387=
ENST00000678655.1:c.1092+1367C= ENSP00000504230.1:n.1092+1367C=
ENST00000678706.1:c.*637C= ENSP00000503659.1:n.*637C=
ENST00000678776.1:c.*1397C= ENSP00000504624.1:n.*1397C=
ENST00000678784.1:c.1073-2228C= ENSP00000504652.1:n.1073-2228C=
ENST00000678820.1:c.1089+1367C= ENSP00000504138.1:n.1089+1367C=
ENST00000678835.1:c.*757-2228C= ENSP00000504343.1:n.*757-2228C=
ENST00000679088.1:c.1260C= ENSP00000504727.1:p.Ile420=
ENST00000679098.1:c.1260C= ENSP00000504303.1:p.Ile420=
ENST00000366782.5:c.1359C= ENSP00000355746.1:p.Ile453=
ENST00000366783.7:c.1260C= ENSP00000355747.3:p.Ile420=
ENST00000422240.6:c.1257C= ENSP00000403737.2:p.Ile419=
ENST00000471728.1:n.518C=
ENST00000472139.2:c.828C= ENSP00000427806.1:p.Ile276=
ENST00000626989.2:c.1359C= ENSP00000486498.1:p.Ile453=
NM_000447.2:c.1260C= NP_000438.2:p.Ile420=
NM_012486.2:c.1257C= NP_036618.2:p.Ile419=
XM_005273199.2:c.1260C= XP_005273256.1:p.Ile420=
XM_011544236.1:c.828C= XP_011542538.1:p.Ile276=
XR_949149.1:n.1994C=
XM_005273199.4:c.1260C= XP_005273256.1:p.Ile420=
XM_017001835.1:c.1260C= XP_016857324.1:p.Ile420=
XM_017001836.1:c.1257C= XP_016857325.1:p.Ile419=
XR_001737316.2:n.1478-2228C=
XR_001737317.2:n.1478-2228C=
XR_001737318.2:n.1975C=
XR_001737319.1:n.2318C=
XR_001737320.1:n.2315C=
XR_001737321.1:n.1810C=
XR_949149.2:n.1972C=
XR_949150.3:n.2191C=
NM_000447.3:c.1260C= MANE Select NP_000438.2:p.Ile420=
NM_012486.3:c.1257C= NP_036618.2:p.Ile419=