Canonical Allele Identifier: CA38627408

Gene: PSEN2

Linked Data

• dbSNP Id: rs772387766
• gnomAD v2: 1-227083587-CAA-C
• gnomAD v3: 1-226895886-CAA-C
• gnomAD v4: 1-226895886-CAA-C
• MyVariant Identifiers: chr1:g.227083588_227083589del (hg19) ; chr1:g.226895887_226895888del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226895888_226895889del , CM000663.2:g.226895888_226895889del	GRCh38
NC_000001.10:g.227083589_227083590del , CM000663.1:g.227083589_227083590del	GRCh37
NC_000001.9:g.225150212_225150213del	NCBI36
NG_007381.1:g.30317_30318del
NG_012825.2:g.3353_3354del
NG_007381.2:g.30705_30706del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.*309_*310del	ENSP00000355741.2:n.*309_*310del
ENST00000366782.6:c.*309_*310del	ENSP00000355746.2:n.*309_*310del
ENST00000366783.8:c.*309_*310del MANE Select	ENSP00000355747.3:n.*309_*310del
ENST00000471728.2:n.2294_2295del
ENST00000524196.6:c.*309_*310del	ENSP00000429036.2:n.*309_*310del
ENST00000626989.3:c.*309_*310del	ENSP00000486498.2:n.*309_*310del
ENST00000676467.1:c.*1483_*1484del	ENSP00000504294.1:n.*1483_*1484del
ENST00000676747.1:c.1188+1763_1188+1764del	ENSP00000503244.1:n.1188+1763_1188+1764del
ENST00000676884.1:c.*309_*310del	ENSP00000503200.1:n.*309_*310del
ENST00000676888.1:c.*997_*998del	ENSP00000504483.1:n.*997_*998del
ENST00000676907.1:c.*1235_*1236del	ENSP00000504410.1:n.*1235_*1236del
ENST00000676945.1:c.1191+1763_1191+1764del	ENSP00000504433.1:n.1191+1763_1191+1764del
ENST00000677065.1:n.2217_2218del
ENST00000677414.1:c.*309_*310del	ENSP00000503116.1:n.*309_*310del
ENST00000677529.1:n.3386_3387del
ENST00000677596.1:c.*1878_*1879del	ENSP00000503618.1:n.*1878_*1879del
ENST00000677599.1:c.1191+1763_1191+1764del	ENSP00000503673.1:n.1191+1763_1191+1764del
ENST00000677748.1:n.3911_3912del
ENST00000677880.1:c.*309_*310del	ENSP00000503121.1:n.*309_*310del
ENST00000678021.1:c.*1279_*1280del	ENSP00000504674.1:n.*1279_*1280del
ENST00000678233.1:c.*8+301_*8+302del	ENSP00000504728.1:n.*8+301_*8+302del
ENST00000678320.1:c.*309_*310del	ENSP00000503680.1:n.*309_*310del
ENST00000678655.1:c.1092+1763_1092+1764del	ENSP00000504230.1:n.1092+1763_1092+1764del
ENST00000678706.1:c.*1033_*1034del	ENSP00000503659.1:n.*1033_*1034del
ENST00000678776.1:c.*1793_*1794del	ENSP00000504624.1:n.*1793_*1794del
ENST00000678784.1:c.1073-1832_1073-1831del	ENSP00000504652.1:n.1073-1832_1073-1831del
ENST00000678820.1:c.1089+1763_1089+1764del	ENSP00000504138.1:n.1089+1763_1089+1764del
ENST00000678835.1:c.*757-1832_*757-1831del	ENSP00000504343.1:n.*757-1832_*757-1831del
ENST00000679088.1:c.*309_*310del	ENSP00000504727.1:n.*309_*310del
ENST00000679098.1:c.*8+301_*8+302del	ENSP00000504303.1:n.*8+301_*8+302del
ENST00000366782.5:c.*309_*310del	ENSP00000355746.1:n.*309_*310del
ENST00000366783.7:c.*309_*310del	ENSP00000355747.3:n.*309_*310del
ENST00000626989.2:c.1755_1756del	ENSP00000486498.1:n.1755_1756del
NM_000447.2:c.*309_*310del	NP_000438.2:n.*309_*310del
NM_012486.2:c.*309_*310del	NP_036618.2:n.*309_*310del
XM_005273199.2:c.*309_*310del	XP_005273256.1:n.*309_*310del
XM_011544236.1:c.*309_*310del	XP_011542538.1:n.*309_*310del
XM_005273199.4:c.*309_*310del	XP_005273256.1:n.*309_*310del
XM_017001835.1:c.*309_*310del	XP_016857324.1:n.*309_*310del
XM_017001836.1:c.*309_*310del	XP_016857325.1:n.*309_*310del
XR_001737316.2:n.1478-1832_1478-1831del
XR_001737317.2:n.1478-1832_1478-1831del
XR_001737318.2:n.2371_2372del
XR_001737319.1:n.2714_2715del
XR_001737320.1:n.2711_2712del
XR_001737321.1:n.2206_2207del
XR_949149.2:n.2368_2369del
XR_949150.3:n.2587_2588del
NM_000447.3:c.*309_*310del MANE Select	NP_000438.2:n.*309_*310del
NM_012486.3:c.*309_*310del	NP_036618.2:n.*309_*310del