Canonical Allele Identifier: CA1225085298

Gene: PSEN2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226895527_226895528delinsAC , CM000663.2:g.226895527_226895528delinsAC	GRCh38
NC_000001.10:g.227083228_227083229delinsAC , CM000663.1:g.227083228_227083229delinsAC	GRCh37
NC_000001.9:g.225149851_225149852delinsAC	NCBI36
NG_007381.1:g.29956_29957delinsAC
NG_012825.2:g.2992_2993delinsAC
NG_007381.2:g.30344_30345delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.1295_1296delinsAC	ENSP00000355741.2:p.Asn432=
ENST00000366782.6:c.1295_1296delinsAC	ENSP00000355746.2:p.Asn432=
ENST00000366783.8:c.1295_1296delinsAC MANE Select	ENSP00000355747.3:p.Asn432=
ENST00000471728.2:n.1933_1934delinsAC
ENST00000524196.6:c.1295_1296delinsAC	ENSP00000429036.2:p.Asn432=
ENST00000626989.3:c.1295_1296delinsAC	ENSP00000486498.2:p.Asn432=
ENST00000676467.1:c.*1122_*1123delinsAC	ENSP00000504294.1:n.*1122_*1123delinsAC
ENST00000676747.1:c.1188+1402_1188+1403delinsAC	ENSP00000503244.1:n.1188+1402_1188+1403delinsAC
ENST00000676884.1:c.1295_1296delinsAC	ENSP00000503200.1:p.Asn432=
ENST00000676888.1:c.*636_*637delinsAC	ENSP00000504483.1:n.*636_*637delinsAC
ENST00000676907.1:c.*874_*875delinsAC	ENSP00000504410.1:n.*874_*875delinsAC
ENST00000676945.1:c.1191+1402_1191+1403delinsAC	ENSP00000504433.1:n.1191+1402_1191+1403delinsAC
ENST00000677065.1:n.1856_1857delinsAC
ENST00000677414.1:c.1295_1296delinsAC	ENSP00000503116.1:p.Asn432=
ENST00000677529.1:n.3025_3026delinsAC
ENST00000677596.1:c.*1517_*1518delinsAC	ENSP00000503618.1:n.*1517_*1518delinsAC
ENST00000677599.1:c.1191+1402_1191+1403delinsAC	ENSP00000503673.1:n.1191+1402_1191+1403delinsAC
ENST00000677748.1:n.3550_3551delinsAC
ENST00000677880.1:c.860_861delinsAC	ENSP00000503121.1:p.Asn287=
ENST00000678021.1:c.*918_*919delinsAC	ENSP00000504674.1:n.*918_*919delinsAC
ENST00000678233.1:c.1295_1296delinsAC	ENSP00000504728.1:p.Asn432=
ENST00000678320.1:c.1196_1197delinsAC	ENSP00000503680.1:p.Asn399=
ENST00000678655.1:c.1092+1402_1092+1403delinsAC	ENSP00000504230.1:n.1092+1402_1092+1403delinsAC
ENST00000678706.1:c.*672_*673delinsAC	ENSP00000503659.1:n.*672_*673delinsAC
ENST00000678776.1:c.*1432_*1433delinsAC	ENSP00000504624.1:n.*1432_*1433delinsAC
ENST00000678784.1:c.1073-2193_1073-2192delinsAC	ENSP00000504652.1:n.1073-2193_1073-2192delinsAC
ENST00000678820.1:c.1089+1402_1089+1403delinsAC	ENSP00000504138.1:n.1089+1402_1089+1403delinsAC
ENST00000678835.1:c.*757-2193_*757-2192delinsAC	ENSP00000504343.1:n.*757-2193_*757-2192delinsAC
ENST00000679088.1:c.1295_1296delinsAC	ENSP00000504727.1:p.Asn432=
ENST00000679098.1:c.1295_1296delinsAC	ENSP00000504303.1:p.Asn432=
ENST00000366782.5:c.1394_1395delinsAC	ENSP00000355746.1:p.Asn465=
ENST00000366783.7:c.1295_1296delinsAC	ENSP00000355747.3:p.Asn432=
ENST00000422240.6:c.1292_1293delinsAC	ENSP00000403737.2:p.Asn431=
ENST00000471728.1:n.553_554delinsAC
ENST00000472139.2:c.863_864delinsAC	ENSP00000427806.1:p.Asn288=
ENST00000626989.2:c.1394_1395delinsAC	ENSP00000486498.1:p.Asn465=
NM_000447.2:c.1295_1296delinsAC	NP_000438.2:p.Asn432=
NM_012486.2:c.1292_1293delinsAC	NP_036618.2:p.Asn431=
XM_005273199.2:c.1295_1296delinsAC	XP_005273256.1:p.Asn432=
XM_011544236.1:c.863_864delinsAC	XP_011542538.1:p.Asn288=
XR_949149.1:n.2029_2030delinsAC
XM_005273199.4:c.1295_1296delinsAC	XP_005273256.1:p.Asn432=
XM_017001835.1:c.1295_1296delinsAC	XP_016857324.1:p.Asn432=
XM_017001836.1:c.1292_1293delinsAC	XP_016857325.1:p.Asn431=
XR_001737316.2:n.1478-2193_1478-2192delinsAC
XR_001737317.2:n.1478-2193_1478-2192delinsAC
XR_001737318.2:n.2010_2011delinsAC
XR_001737319.1:n.2353_2354delinsAC
XR_001737320.1:n.2350_2351delinsAC
XR_001737321.1:n.1845_1846delinsAC
XR_949149.2:n.2007_2008delinsAC
XR_949150.3:n.2226_2227delinsAC
NM_000447.3:c.1295_1296delinsAC MANE Select	NP_000438.2:p.Asn432=
NM_012486.3:c.1292_1293delinsAC	NP_036618.2:p.Asn431=