Canonical Allele Identifier: CA1225085275

Gene: PSEN2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226895466_226895467delinsGC , CM000663.2:g.226895466_226895467delinsGC	GRCh38
NC_000001.10:g.227083167_227083168delinsGC , CM000663.1:g.227083167_227083168delinsGC	GRCh37
NC_000001.9:g.225149790_225149791delinsGC	NCBI36
NG_007381.1:g.29895_29896delinsGC
NG_012825.2:g.2931_2932delinsGC
NG_007381.2:g.30283_30284delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.1234_1235delinsGC	ENSP00000355741.2:p.Ala412=
ENST00000366782.6:c.1234_1235delinsGC	ENSP00000355746.2:p.Ala412=
ENST00000366783.8:c.1234_1235delinsGC MANE Select	ENSP00000355747.3:p.Ala412=
ENST00000471728.2:n.1872_1873delinsGC
ENST00000524196.6:c.1234_1235delinsGC	ENSP00000429036.2:p.Ala412=
ENST00000626989.3:c.1234_1235delinsGC	ENSP00000486498.2:p.Ala412=
ENST00000676467.1:c.*1061_*1062delinsGC	ENSP00000504294.1:n.*1061_*1062delinsGC
ENST00000676747.1:c.1188+1341_1188+1342delinsGC	ENSP00000503244.1:n.1188+1341_1188+1342delinsGC
ENST00000676884.1:c.1234_1235delinsGC	ENSP00000503200.1:p.Ala412=
ENST00000676888.1:c.*575_*576delinsGC	ENSP00000504483.1:n.*575_*576delinsGC
ENST00000676907.1:c.*813_*814delinsGC	ENSP00000504410.1:n.*813_*814delinsGC
ENST00000676945.1:c.1191+1341_1191+1342delinsGC	ENSP00000504433.1:n.1191+1341_1191+1342delinsGC
ENST00000677065.1:n.1795_1796delinsGC
ENST00000677414.1:c.1234_1235delinsGC	ENSP00000503116.1:p.Ala412=
ENST00000677529.1:n.2964_2965delinsGC
ENST00000677596.1:c.*1456_*1457delinsGC	ENSP00000503618.1:n.*1456_*1457delinsGC
ENST00000677599.1:c.1191+1341_1191+1342delinsGC	ENSP00000503673.1:n.1191+1341_1191+1342delinsGC
ENST00000677748.1:n.3489_3490delinsGC
ENST00000677880.1:c.799_800delinsGC	ENSP00000503121.1:p.Ala267=
ENST00000678021.1:c.*857_*858delinsGC	ENSP00000504674.1:n.*857_*858delinsGC
ENST00000678233.1:c.1234_1235delinsGC	ENSP00000504728.1:p.Ala412=
ENST00000678320.1:c.1135_1136delinsGC	ENSP00000503680.1:p.Ala379=
ENST00000678655.1:c.1092+1341_1092+1342delinsGC	ENSP00000504230.1:n.1092+1341_1092+1342delinsGC
ENST00000678706.1:c.*611_*612delinsGC	ENSP00000503659.1:n.*611_*612delinsGC
ENST00000678776.1:c.*1371_*1372delinsGC	ENSP00000504624.1:n.*1371_*1372delinsGC
ENST00000678784.1:c.1073-2254_1073-2253delinsGC	ENSP00000504652.1:n.1073-2254_1073-2253delinsGC
ENST00000678820.1:c.1089+1341_1089+1342delinsGC	ENSP00000504138.1:n.1089+1341_1089+1342delinsGC
ENST00000678835.1:c.*757-2254_*757-2253delinsGC	ENSP00000504343.1:n.*757-2254_*757-2253delinsGC
ENST00000679088.1:c.1234_1235delinsGC	ENSP00000504727.1:p.Ala412=
ENST00000679098.1:c.1234_1235delinsGC	ENSP00000504303.1:p.Ala412=
ENST00000366782.5:c.1333_1334delinsGC	ENSP00000355746.1:p.Ala445=
ENST00000366783.7:c.1234_1235delinsGC	ENSP00000355747.3:p.Ala412=
ENST00000422240.6:c.1231_1232delinsGC	ENSP00000403737.2:p.Ala411=
ENST00000471728.1:n.492_493delinsGC
ENST00000472139.2:c.802_803delinsGC	ENSP00000427806.1:p.Ala268=
ENST00000626989.2:c.1333_1334delinsGC	ENSP00000486498.1:p.Ala445=
NM_000447.2:c.1234_1235delinsGC	NP_000438.2:p.Ala412=
NM_012486.2:c.1231_1232delinsGC	NP_036618.2:p.Ala411=
XM_005273199.2:c.1234_1235delinsGC	XP_005273256.1:p.Ala412=
XM_011544236.1:c.802_803delinsGC	XP_011542538.1:p.Ala268=
XR_949149.1:n.1968_1969delinsGC
XM_005273199.4:c.1234_1235delinsGC	XP_005273256.1:p.Ala412=
XM_017001835.1:c.1234_1235delinsGC	XP_016857324.1:p.Ala412=
XM_017001836.1:c.1231_1232delinsGC	XP_016857325.1:p.Ala411=
XR_001737316.2:n.1478-2254_1478-2253delinsGC
XR_001737317.2:n.1478-2254_1478-2253delinsGC
XR_001737318.2:n.1949_1950delinsGC
XR_001737319.1:n.2292_2293delinsGC
XR_001737320.1:n.2289_2290delinsGC
XR_001737321.1:n.1784_1785delinsGC
XR_949149.2:n.1946_1947delinsGC
XR_949150.3:n.2165_2166delinsGC
NM_000447.3:c.1234_1235delinsGC MANE Select	NP_000438.2:p.Ala412=
NM_012486.3:c.1231_1232delinsGC	NP_036618.2:p.Ala411=