Canonical Allele Identifier: CA2650788213

Gene: PSEN2

Linked Data

• gnomAD v4: 1-226895427-TTG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226895431_226895432del , CM000663.2:g.226895431_226895432del	GRCh38
NC_000001.10:g.227083132_227083133del , CM000663.1:g.227083132_227083133del	GRCh37
NC_000001.9:g.225149755_225149756del	NCBI36
NG_007381.1:g.29860_29861del
NG_012825.2:g.2896_2897del
NG_007381.2:g.30248_30249del

Transcript Alleles

HGVS	Amino-acid change
ENST00000366779.6:c.1199_1200del	ENSP00000355741.2:p.Cys400SerfsTer?
ENST00000366782.6:c.1199_1200del	ENSP00000355746.2:p.Cys400SerfsTer?
ENST00000366783.8:c.1199_1200del MANE Select	ENSP00000355747.3:p.Cys400SerfsTer?
ENST00000471728.2:n.1837_1838del
ENST00000524196.6:c.1199_1200del	ENSP00000429036.2:p.Cys400SerfsTer?
ENST00000626989.3:c.1199_1200del	ENSP00000486498.2:p.Cys400SerfsTer?
ENST00000676467.1:c.*1026_*1027del	ENSP00000504294.1:n.*1026_*1027del
ENST00000676747.1:c.1188+1306_1188+1307del	ENSP00000503244.1:n.1188+1306_1188+1307de...
ENST00000676884.1:c.1199_1200del	ENSP00000503200.1:p.Cys400SerfsTer?
ENST00000676888.1:c.*540_*541del	ENSP00000504483.1:n.*540_*541del
ENST00000676907.1:c.*778_*779del	ENSP00000504410.1:n.*778_*779del
ENST00000676945.1:c.1191+1306_1191+1307del	ENSP00000504433.1:n.1191+1306_1191+1307de...
ENST00000677065.1:n.1760_1761del
ENST00000677414.1:c.1199_1200del	ENSP00000503116.1:p.Cys400SerfsTer?
ENST00000677529.1:n.2929_2930del
ENST00000677596.1:c.*1421_*1422del	ENSP00000503618.1:n.*1421_*1422del
ENST00000677599.1:c.1191+1306_1191+1307del	ENSP00000503673.1:n.1191+1306_1191+1307de...
ENST00000677748.1:n.3454_3455del
ENST00000677880.1:c.764_765del	ENSP00000503121.1:p.Cys255SerfsTer?
ENST00000678021.1:c.*822_*823del	ENSP00000504674.1:n.*822_*823del
ENST00000678233.1:c.1199_1200del	ENSP00000504728.1:p.Cys400SerfsTer?
ENST00000678320.1:c.1100_1101del	ENSP00000503680.1:p.Cys367SerfsTer?
ENST00000678655.1:c.1092+1306_1092+1307del	ENSP00000504230.1:n.1092+1306_1092+1307de...
ENST00000678706.1:c.*576_*577del	ENSP00000503659.1:n.*576_*577del
ENST00000678776.1:c.*1336_*1337del	ENSP00000504624.1:n.*1336_*1337del
ENST00000678784.1:c.1073-2289_1073-2288del	ENSP00000504652.1:n.1073-2289_1073-2288de...
ENST00000678820.1:c.1089+1306_1089+1307del	ENSP00000504138.1:n.1089+1306_1089+1307de...
ENST00000678835.1:c.*757-2289_*757-2288del	ENSP00000504343.1:n.*757-2289_*757-2288de...
ENST00000679088.1:c.1199_1200del	ENSP00000504727.1:p.Cys400SerfsTer?
ENST00000679098.1:c.1199_1200del	ENSP00000504303.1:p.Cys400SerfsTer?
ENST00000366782.5:c.1298_1299del	ENSP00000355746.1:p.Cys433SerfsTer?
ENST00000366783.7:c.1199_1200del	ENSP00000355747.3:p.Cys400SerfsTer?
ENST00000422240.6:c.1196_1197del	ENSP00000403737.2:p.Cys399SerfsTer?
ENST00000471728.1:n.457_458del
ENST00000472139.2:c.767_768del	ENSP00000427806.1:p.Cys256SerfsTer?
ENST00000626989.2:c.1298_1299del	ENSP00000486498.1:p.Cys433SerfsTer?
NM_000447.2:c.1199_1200del	NP_000438.2:p.Cys400SerfsTer?
NM_012486.2:c.1196_1197del	NP_036618.2:p.Cys399SerfsTer?
XM_005273199.2:c.1199_1200del	XP_005273256.1:p.Cys400SerfsTer?
XM_011544236.1:c.767_768del	XP_011542538.1:p.Cys256SerfsTer?
XR_949149.1:n.1933_1934del
XM_005273199.4:c.1199_1200del	XP_005273256.1:p.Cys400SerfsTer?
XM_017001835.1:c.1199_1200del	XP_016857324.1:p.Cys400SerfsTer?
XM_017001836.1:c.1196_1197del	XP_016857325.1:p.Cys399SerfsTer?
XR_001737316.2:n.1478-2289_1478-2288del
XR_001737317.2:n.1478-2289_1478-2288del
XR_001737318.2:n.1914_1915del
XR_001737319.1:n.2257_2258del
XR_001737320.1:n.2254_2255del
XR_001737321.1:n.1749_1750del
XR_949149.2:n.1911_1912del
XR_949150.3:n.2130_2131del
NM_000447.3:c.1199_1200del MANE Select	NP_000438.2:p.Cys400SerfsTer?
NM_012486.3:c.1196_1197del	NP_036618.2:p.Cys399SerfsTer?