Canonical Allele Identifier: CA1225085306
Gene: PSEN2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.226895546G= , CM000663.2:g.226895546G= GRCh38
NC_000001.10:g.227083247G= , CM000663.1:g.227083247G= GRCh37
NC_000001.9:g.225149870G= NCBI36
NG_007381.1:g.29975G=
NG_012825.2:g.3011G=
NG_007381.2:g.30363G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000366779.6:c.1314G= ENSP00000355741.2:p.Met438=
ENST00000366782.6:c.1314G= ENSP00000355746.2:p.Met438=
ENST00000366783.8:c.1314G= MANE Select ENSP00000355747.3:p.Met438=
ENST00000471728.2:n.1952G=
ENST00000524196.6:c.1314G= ENSP00000429036.2:p.Met438=
ENST00000626989.3:c.1314G= ENSP00000486498.2:p.Met438=
ENST00000676467.1:c.*1141G= ENSP00000504294.1:n.*1141G=
ENST00000676747.1:c.1188+1421G= ENSP00000503244.1:n.1188+1421G=
ENST00000676884.1:c.1314G= ENSP00000503200.1:p.Met438=
ENST00000676888.1:c.*655G= ENSP00000504483.1:n.*655G=
ENST00000676907.1:c.*893G= ENSP00000504410.1:n.*893G=
ENST00000676945.1:c.1191+1421G= ENSP00000504433.1:n.1191+1421G=
ENST00000677065.1:n.1875G=
ENST00000677414.1:c.1314G= ENSP00000503116.1:p.Met438=
ENST00000677529.1:n.3044G=
ENST00000677596.1:c.*1536G= ENSP00000503618.1:n.*1536G=
ENST00000677599.1:c.1191+1421G= ENSP00000503673.1:n.1191+1421G=
ENST00000677748.1:n.3569G=
ENST00000677880.1:c.879G= ENSP00000503121.1:p.Met293=
ENST00000678021.1:c.*937G= ENSP00000504674.1:n.*937G=
ENST00000678233.1:c.1314G= ENSP00000504728.1:p.Met438=
ENST00000678320.1:c.1215G= ENSP00000503680.1:p.Met405=
ENST00000678655.1:c.1092+1421G= ENSP00000504230.1:n.1092+1421G=
ENST00000678706.1:c.*691G= ENSP00000503659.1:n.*691G=
ENST00000678776.1:c.*1451G= ENSP00000504624.1:n.*1451G=
ENST00000678784.1:c.1073-2174G= ENSP00000504652.1:n.1073-2174G=
ENST00000678820.1:c.1089+1421G= ENSP00000504138.1:n.1089+1421G=
ENST00000678835.1:c.*757-2174G= ENSP00000504343.1:n.*757-2174G=
ENST00000679088.1:c.1314G= ENSP00000504727.1:p.Met438=
ENST00000679098.1:c.1314G= ENSP00000504303.1:p.Met438=
ENST00000366782.5:c.1413G= ENSP00000355746.1:p.Met471=
ENST00000366783.7:c.1314G= ENSP00000355747.3:p.Met438=
ENST00000422240.6:c.1311G= ENSP00000403737.2:p.Met437=
ENST00000472139.2:c.882G= ENSP00000427806.1:p.Met294=
ENST00000626989.2:c.1413G= ENSP00000486498.1:p.Met471=
NM_000447.2:c.1314G= NP_000438.2:p.Met438=
NM_012486.2:c.1311G= NP_036618.2:p.Met437=
XM_005273199.2:c.1314G= XP_005273256.1:p.Met438=
XM_011544236.1:c.882G= XP_011542538.1:p.Met294=
XM_005273199.4:c.1314G= XP_005273256.1:p.Met438=
XM_017001835.1:c.1314G= XP_016857324.1:p.Met438=
XM_017001836.1:c.1311G= XP_016857325.1:p.Met437=
XR_001737316.2:n.1478-2174G=
XR_001737317.2:n.1478-2174G=
XR_001737318.2:n.2029G=
XR_001737319.1:n.2372G=
XR_001737320.1:n.2369G=
XR_001737321.1:n.1864G=
XR_949149.2:n.2026G=
XR_949150.3:n.2245G=
NM_000447.3:c.1314G= MANE Select NP_000438.2:p.Met438=
NM_012486.3:c.1311G= NP_036618.2:p.Met437=