Canonical Allele Identifier: CA2574012792

Gene: PSEN2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226895515_226895517del , CM000663.2:g.226895515_226895517del	GRCh38
NC_000001.10:g.227083216_227083218del , CM000663.1:g.227083216_227083218del	GRCh37
NC_000001.9:g.225149839_225149841del	NCBI36
NG_007381.1:g.29944_29946del
NG_012825.2:g.2980_2982del
NG_007381.2:g.30332_30334del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.1283_1285del	ENSP00000355741.2:p.Phe428del
ENST00000366782.6:c.1283_1285del	ENSP00000355746.2:p.Phe428del
ENST00000366783.8:c.1283_1285del MANE Select	ENSP00000355747.3:p.Phe428del
ENST00000471728.2:n.1921_1923del
ENST00000524196.6:c.1283_1285del	ENSP00000429036.2:p.Phe428del
ENST00000626989.3:c.1283_1285del	ENSP00000486498.2:p.Phe428del
ENST00000676467.1:c.*1110_*1112del	ENSP00000504294.1:n.*1110_*1112del
ENST00000676747.1:c.1188+1390_1188+1392del	ENSP00000503244.1:n.1188+1390_1188+1392del
ENST00000676884.1:c.1283_1285del	ENSP00000503200.1:p.Phe428del
ENST00000676888.1:c.*624_*626del	ENSP00000504483.1:n.*624_*626del
ENST00000676907.1:c.*862_*864del	ENSP00000504410.1:n.*862_*864del
ENST00000676945.1:c.1191+1390_1191+1392del	ENSP00000504433.1:n.1191+1390_1191+1392del
ENST00000677065.1:n.1844_1846del
ENST00000677414.1:c.1283_1285del	ENSP00000503116.1:p.Phe428del
ENST00000677529.1:n.3013_3015del
ENST00000677596.1:c.*1505_*1507del	ENSP00000503618.1:n.*1505_*1507del
ENST00000677599.1:c.1191+1390_1191+1392del	ENSP00000503673.1:n.1191+1390_1191+1392del
ENST00000677748.1:n.3538_3540del
ENST00000677880.1:c.848_850del	ENSP00000503121.1:p.Phe283del
ENST00000678021.1:c.*906_*908del	ENSP00000504674.1:n.*906_*908del
ENST00000678233.1:c.1283_1285del	ENSP00000504728.1:p.Phe428del
ENST00000678320.1:c.1184_1186del	ENSP00000503680.1:p.Phe395del
ENST00000678655.1:c.1092+1390_1092+1392del	ENSP00000504230.1:n.1092+1390_1092+1392del
ENST00000678706.1:c.*660_*662del	ENSP00000503659.1:n.*660_*662del
ENST00000678776.1:c.*1420_*1422del	ENSP00000504624.1:n.*1420_*1422del
ENST00000678784.1:c.1073-2205_1073-2203del	ENSP00000504652.1:n.1073-2205_1073-2203del
ENST00000678820.1:c.1089+1390_1089+1392del	ENSP00000504138.1:n.1089+1390_1089+1392del
ENST00000678835.1:c.*757-2205_*757-2203del	ENSP00000504343.1:n.*757-2205_*757-2203del
ENST00000679088.1:c.1283_1285del	ENSP00000504727.1:p.Phe428del
ENST00000679098.1:c.1283_1285del	ENSP00000504303.1:p.Phe428del
ENST00000366782.5:c.1382_1384del	ENSP00000355746.1:p.Phe461del
ENST00000366783.7:c.1283_1285del	ENSP00000355747.3:p.Phe428del
ENST00000422240.6:c.1280_1282del	ENSP00000403737.2:p.Phe427del
ENST00000471728.1:n.541_543del
ENST00000472139.2:c.851_853del	ENSP00000427806.1:p.Phe284del
ENST00000626989.2:c.1382_1384del	ENSP00000486498.1:p.Phe461del
NM_000447.2:c.1283_1285del	NP_000438.2:p.Phe428del
NM_012486.2:c.1280_1282del	NP_036618.2:p.Phe427del
XM_005273199.2:c.1283_1285del	XP_005273256.1:p.Phe428del
XM_011544236.1:c.851_853del	XP_011542538.1:p.Phe284del
XR_949149.1:n.2017_2019del
XM_005273199.4:c.1283_1285del	XP_005273256.1:p.Phe428del
XM_017001835.1:c.1283_1285del	XP_016857324.1:p.Phe428del
XM_017001836.1:c.1280_1282del	XP_016857325.1:p.Phe427del
XR_001737316.2:n.1478-2205_1478-2203del
XR_001737317.2:n.1478-2205_1478-2203del
XR_001737318.2:n.1998_2000del
XR_001737319.1:n.2341_2343del
XR_001737320.1:n.2338_2340del
XR_001737321.1:n.1833_1835del
XR_949149.2:n.1995_1997del
XR_949150.3:n.2214_2216del
NM_000447.3:c.1283_1285del MANE Select	NP_000438.2:p.Phe428del
NM_012486.3:c.1280_1282del	NP_036618.2:p.Phe427del