Canonical Allele Identifier: CA2650788420

Gene: PSEN2

Linked Data

• gnomAD v4: 1-226895845-AGGGCGGGGAGAAGAGCATCCGGCATGAGGGCTGAGATGCGCAAAGAGTGTGCTC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226895849_226895902del , CM000663.2:g.226895849_226895902del	GRCh38
NC_000001.10:g.227083550_227083603del , CM000663.1:g.227083550_227083603del	GRCh37
NC_000001.9:g.225150173_225150226del	NCBI36
NG_007381.1:g.30278_30331del
NG_012825.2:g.3314_3367del
NG_007381.2:g.30666_30719del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.*270_*323del	ENSP00000355741.2:n.*270_*323del
ENST00000366782.6:c.*270_*323del	ENSP00000355746.2:n.*270_*323del
ENST00000366783.8:c.*270_*323del MANE Select	ENSP00000355747.3:n.*270_*323del
ENST00000471728.2:n.2255_2308del
ENST00000524196.6:c.*270_*323del	ENSP00000429036.2:n.*270_*323del
ENST00000626989.3:c.*270_*323del	ENSP00000486498.2:n.*270_*323del
ENST00000676467.1:c.*1444_*1497del	ENSP00000504294.1:n.*1444_*1497del
ENST00000676747.1:c.1188+1724_1188+1777del	ENSP00000503244.1:n.1188+1724_1188+1777del
ENST00000676884.1:c.*270_*323del	ENSP00000503200.1:n.*270_*323del
ENST00000676888.1:c.*958_*1011del	ENSP00000504483.1:n.*958_*1011del
ENST00000676907.1:c.*1196_*1249del	ENSP00000504410.1:n.*1196_*1249del
ENST00000676945.1:c.1191+1724_1191+1777del	ENSP00000504433.1:n.1191+1724_1191+1777del
ENST00000677065.1:n.2178_2231del
ENST00000677414.1:c.*270_*323del	ENSP00000503116.1:n.*270_*323del
ENST00000677529.1:n.3347_3400del
ENST00000677596.1:c.*1839_*1892del	ENSP00000503618.1:n.*1839_*1892del
ENST00000677599.1:c.1191+1724_1191+1777del	ENSP00000503673.1:n.1191+1724_1191+1777del
ENST00000677748.1:n.3872_3925del
ENST00000677880.1:c.*270_*323del	ENSP00000503121.1:n.*270_*323del
ENST00000678021.1:c.*1240_*1293del	ENSP00000504674.1:n.*1240_*1293del
ENST00000678233.1:c.*8+262_*8+315del	ENSP00000504728.1:n.*8+262_*8+315del
ENST00000678320.1:c.*270_*323del	ENSP00000503680.1:n.*270_*323del
ENST00000678655.1:c.1092+1724_1092+1777del	ENSP00000504230.1:n.1092+1724_1092+1777del
ENST00000678706.1:c.*994_*1047del	ENSP00000503659.1:n.*994_*1047del
ENST00000678776.1:c.*1754_*1807del	ENSP00000504624.1:n.*1754_*1807del
ENST00000678784.1:c.1073-1871_1073-1818del	ENSP00000504652.1:n.1073-1871_1073-1818del
ENST00000678820.1:c.1089+1724_1089+1777del	ENSP00000504138.1:n.1089+1724_1089+1777del
ENST00000678835.1:c.*757-1871_*757-1818del	ENSP00000504343.1:n.*757-1871_*757-1818del
ENST00000679088.1:c.*270_*323del	ENSP00000504727.1:n.*270_*323del
ENST00000679098.1:c.*8+262_*8+315del	ENSP00000504303.1:n.*8+262_*8+315del
ENST00000366782.5:c.*270_*323del	ENSP00000355746.1:n.*270_*323del
ENST00000366783.7:c.*270_*323del	ENSP00000355747.3:n.*270_*323del
ENST00000626989.2:c.1716_1769del	ENSP00000486498.1:n.1716_1769del
NM_000447.2:c.*270_*323del	NP_000438.2:n.*270_*323del
NM_012486.2:c.*270_*323del	NP_036618.2:n.*270_*323del
XM_005273199.2:c.*270_*323del	XP_005273256.1:n.*270_*323del
XM_011544236.1:c.*270_*323del	XP_011542538.1:n.*270_*323del
XM_005273199.4:c.*270_*323del	XP_005273256.1:n.*270_*323del
XM_017001835.1:c.*270_*323del	XP_016857324.1:n.*270_*323del
XM_017001836.1:c.*270_*323del	XP_016857325.1:n.*270_*323del
XR_001737316.2:n.1478-1871_1478-1818del
XR_001737317.2:n.1478-1871_1478-1818del
XR_001737318.2:n.2332_2385del
XR_001737319.1:n.2675_2728del
XR_001737320.1:n.2672_2725del
XR_001737321.1:n.2167_2220del
XR_949149.2:n.2329_2382del
XR_949150.3:n.2548_2601del
NM_000447.3:c.*270_*323del MANE Select	NP_000438.2:n.*270_*323del
NM_012486.3:c.*270_*323del	NP_036618.2:n.*270_*323del