Canonical Allele Identifier: CA1012965118

Gene: PSEN2

Linked Data

• dbSNP Id: rs1662086411
• gnomAD v3: 1-226895515-TCTC-T
• gnomAD v4: 1-226895515-TCTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226895517_226895519del , CM000663.2:g.226895517_226895519del	GRCh38
NC_000001.10:g.227083218_227083220del , CM000663.1:g.227083218_227083220del	GRCh37
NC_000001.9:g.225149841_225149843del	NCBI36
NG_007381.1:g.29946_29948del
NG_012825.2:g.2982_2984del
NG_007381.2:g.30334_30336del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.1285_1287del	ENSP00000355741.2:p.Ser429del
ENST00000366782.6:c.1285_1287del	ENSP00000355746.2:p.Ser429del
ENST00000366783.8:c.1285_1287del MANE Select	ENSP00000355747.3:p.Ser429del
ENST00000471728.2:n.1923_1925del
ENST00000524196.6:c.1285_1287del	ENSP00000429036.2:p.Ser429del
ENST00000626989.3:c.1285_1287del	ENSP00000486498.2:p.Ser429del
ENST00000676467.1:c.*1112_*1114del	ENSP00000504294.1:n.*1112_*1114del
ENST00000676747.1:c.1188+1392_1188+1394del	ENSP00000503244.1:n.1188+1392_1188+1394del
ENST00000676884.1:c.1285_1287del	ENSP00000503200.1:p.Ser429del
ENST00000676888.1:c.*626_*628del	ENSP00000504483.1:n.*626_*628del
ENST00000676907.1:c.*864_*866del	ENSP00000504410.1:n.*864_*866del
ENST00000676945.1:c.1191+1392_1191+1394del	ENSP00000504433.1:n.1191+1392_1191+1394del
ENST00000677065.1:n.1846_1848del
ENST00000677414.1:c.1285_1287del	ENSP00000503116.1:p.Ser429del
ENST00000677529.1:n.3015_3017del
ENST00000677596.1:c.*1507_*1509del	ENSP00000503618.1:n.*1507_*1509del
ENST00000677599.1:c.1191+1392_1191+1394del	ENSP00000503673.1:n.1191+1392_1191+1394del
ENST00000677748.1:n.3540_3542del
ENST00000677880.1:c.850_852del	ENSP00000503121.1:p.Ser284del
ENST00000678021.1:c.*908_*910del	ENSP00000504674.1:n.*908_*910del
ENST00000678233.1:c.1285_1287del	ENSP00000504728.1:p.Ser429del
ENST00000678320.1:c.1186_1188del	ENSP00000503680.1:p.Ser396del
ENST00000678655.1:c.1092+1392_1092+1394del	ENSP00000504230.1:n.1092+1392_1092+1394del
ENST00000678706.1:c.*662_*664del	ENSP00000503659.1:n.*662_*664del
ENST00000678776.1:c.*1422_*1424del	ENSP00000504624.1:n.*1422_*1424del
ENST00000678784.1:c.1073-2203_1073-2201del	ENSP00000504652.1:n.1073-2203_1073-2201del
ENST00000678820.1:c.1089+1392_1089+1394del	ENSP00000504138.1:n.1089+1392_1089+1394del
ENST00000678835.1:c.*757-2203_*757-2201del	ENSP00000504343.1:n.*757-2203_*757-2201del
ENST00000679088.1:c.1285_1287del	ENSP00000504727.1:p.Ser429del
ENST00000679098.1:c.1285_1287del	ENSP00000504303.1:p.Ser429del
ENST00000366782.5:c.1384_1386del	ENSP00000355746.1:p.Ser462del
ENST00000366783.7:c.1285_1287del	ENSP00000355747.3:p.Ser429del
ENST00000422240.6:c.1282_1284del	ENSP00000403737.2:p.Ser428del
ENST00000471728.1:n.543_545del
ENST00000472139.2:c.853_855del	ENSP00000427806.1:p.Ser285del
ENST00000626989.2:c.1384_1386del	ENSP00000486498.1:p.Ser462del
NM_000447.2:c.1285_1287del	NP_000438.2:p.Ser429del
NM_012486.2:c.1282_1284del	NP_036618.2:p.Ser428del
XM_005273199.2:c.1285_1287del	XP_005273256.1:p.Ser429del
XM_011544236.1:c.853_855del	XP_011542538.1:p.Ser285del
XR_949149.1:n.2019_2021del
XM_005273199.4:c.1285_1287del	XP_005273256.1:p.Ser429del
XM_017001835.1:c.1285_1287del	XP_016857324.1:p.Ser429del
XM_017001836.1:c.1282_1284del	XP_016857325.1:p.Ser428del
XR_001737316.2:n.1478-2203_1478-2201del
XR_001737317.2:n.1478-2203_1478-2201del
XR_001737318.2:n.2000_2002del
XR_001737319.1:n.2343_2345del
XR_001737320.1:n.2340_2342del
XR_001737321.1:n.1835_1837del
XR_949149.2:n.1997_1999del
XR_949150.3:n.2216_2218del
NM_000447.3:c.1285_1287del MANE Select	NP_000438.2:p.Ser429del
NM_012486.3:c.1282_1284del	NP_036618.2:p.Ser428del