Canonical Allele Identifier: CA1225085268
Gene: PSEN2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.226895441C= , CM000663.2:g.226895441C= GRCh38
NC_000001.10:g.227083142C= , CM000663.1:g.227083142C= GRCh37
NC_000001.9:g.225149765C= NCBI36
NG_007381.1:g.29870C=
NG_012825.2:g.2906C=
NG_007381.2:g.30258C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000366779.6:c.1209C= ENSP00000355741.2:p.Leu403=
ENST00000366782.6:c.1209C= ENSP00000355746.2:p.Leu403=
ENST00000366783.8:c.1209C= MANE Select ENSP00000355747.3:p.Leu403=
ENST00000471728.2:n.1847C=
ENST00000524196.6:c.1209C= ENSP00000429036.2:p.Leu403=
ENST00000626989.3:c.1209C= ENSP00000486498.2:p.Leu403=
ENST00000676467.1:c.*1036C= ENSP00000504294.1:n.*1036C=
ENST00000676747.1:c.1188+1316C= ENSP00000503244.1:n.1188+1316C=
ENST00000676884.1:c.1209C= ENSP00000503200.1:p.Leu403=
ENST00000676888.1:c.*550C= ENSP00000504483.1:n.*550C=
ENST00000676907.1:c.*788C= ENSP00000504410.1:n.*788C=
ENST00000676945.1:c.1191+1316C= ENSP00000504433.1:n.1191+1316C=
ENST00000677065.1:n.1770C=
ENST00000677414.1:c.1209C= ENSP00000503116.1:p.Leu403=
ENST00000677529.1:n.2939C=
ENST00000677596.1:c.*1431C= ENSP00000503618.1:n.*1431C=
ENST00000677599.1:c.1191+1316C= ENSP00000503673.1:n.1191+1316C=
ENST00000677748.1:n.3464C=
ENST00000677880.1:c.774C= ENSP00000503121.1:p.Leu258=
ENST00000678021.1:c.*832C= ENSP00000504674.1:n.*832C=
ENST00000678233.1:c.1209C= ENSP00000504728.1:p.Leu403=
ENST00000678320.1:c.1110C= ENSP00000503680.1:p.Leu370=
ENST00000678655.1:c.1092+1316C= ENSP00000504230.1:n.1092+1316C=
ENST00000678706.1:c.*586C= ENSP00000503659.1:n.*586C=
ENST00000678776.1:c.*1346C= ENSP00000504624.1:n.*1346C=
ENST00000678784.1:c.1073-2279C= ENSP00000504652.1:n.1073-2279C=
ENST00000678820.1:c.1089+1316C= ENSP00000504138.1:n.1089+1316C=
ENST00000678835.1:c.*757-2279C= ENSP00000504343.1:n.*757-2279C=
ENST00000679088.1:c.1209C= ENSP00000504727.1:p.Leu403=
ENST00000679098.1:c.1209C= ENSP00000504303.1:p.Leu403=
ENST00000366782.5:c.1308C= ENSP00000355746.1:p.Leu436=
ENST00000366783.7:c.1209C= ENSP00000355747.3:p.Leu403=
ENST00000422240.6:c.1206C= ENSP00000403737.2:p.Leu402=
ENST00000471728.1:n.467C=
ENST00000472139.2:c.777C= ENSP00000427806.1:p.Leu259=
ENST00000626989.2:c.1308C= ENSP00000486498.1:p.Leu436=
NM_000447.2:c.1209C= NP_000438.2:p.Leu403=
NM_012486.2:c.1206C= NP_036618.2:p.Leu402=
XM_005273199.2:c.1209C= XP_005273256.1:p.Leu403=
XM_011544236.1:c.777C= XP_011542538.1:p.Leu259=
XR_949149.1:n.1943C=
XM_005273199.4:c.1209C= XP_005273256.1:p.Leu403=
XM_017001835.1:c.1209C= XP_016857324.1:p.Leu403=
XM_017001836.1:c.1206C= XP_016857325.1:p.Leu402=
XR_001737316.2:n.1478-2279C=
XR_001737317.2:n.1478-2279C=
XR_001737318.2:n.1924C=
XR_001737319.1:n.2267C=
XR_001737320.1:n.2264C=
XR_001737321.1:n.1759C=
XR_949149.2:n.1921C=
XR_949150.3:n.2140C=
NM_000447.3:c.1209C= MANE Select NP_000438.2:p.Leu403=
NM_012486.3:c.1206C= NP_036618.2:p.Leu402=