Canonical Allele Identifier: CA1012965321

Gene: PSEN2

Linked Data

• dbSNP Id: rs1662122825
• gnomAD v3: 1-226895923-TGC-T
• gnomAD v4: 1-226895923-TGC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226895924_226895925del , CM000663.2:g.226895924_226895925del	GRCh38
NC_000001.10:g.227083625_227083626del , CM000663.1:g.227083625_227083626del	GRCh37
NC_000001.9:g.225150248_225150249del	NCBI36
NG_007381.1:g.30353_30354del
NG_012825.2:g.3389_3390del
NG_007381.2:g.30741_30742del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.*345_*346del	ENSP00000355741.2:n.*345_*346del
ENST00000366782.6:c.*345_*346del	ENSP00000355746.2:n.*345_*346del
ENST00000366783.8:c.*345_*346del MANE Select	ENSP00000355747.3:n.*345_*346del
ENST00000471728.2:n.2330_2331del
ENST00000524196.6:c.*345_*346del	ENSP00000429036.2:n.*345_*346del
ENST00000626989.3:c.*345_*346del	ENSP00000486498.2:n.*345_*346del
ENST00000676467.1:c.*1519_*1520del	ENSP00000504294.1:n.*1519_*1520del
ENST00000676747.1:c.1189-1796_1189-1795del	ENSP00000503244.1:n.1189-1796_1189-1795del
ENST00000676884.1:c.*345_*346del	ENSP00000503200.1:n.*345_*346del
ENST00000676888.1:c.*1033_*1034del	ENSP00000504483.1:n.*1033_*1034del
ENST00000676907.1:c.*1271_*1272del	ENSP00000504410.1:n.*1271_*1272del
ENST00000676945.1:c.1191+1799_1191+1800del	ENSP00000504433.1:n.1191+1799_1191+1800del
ENST00000677065.1:n.2253_2254del
ENST00000677414.1:c.*345_*346del	ENSP00000503116.1:n.*345_*346del
ENST00000677529.1:n.3422_3423del
ENST00000677596.1:c.*1914_*1915del	ENSP00000503618.1:n.*1914_*1915del
ENST00000677599.1:c.1191+1799_1191+1800del	ENSP00000503673.1:n.1191+1799_1191+1800del
ENST00000677748.1:n.3947_3948del
ENST00000677880.1:c.*345_*346del	ENSP00000503121.1:n.*345_*346del
ENST00000678021.1:c.*1315_*1316del	ENSP00000504674.1:n.*1315_*1316del
ENST00000678233.1:c.*8+337_*8+338del	ENSP00000504728.1:n.*8+337_*8+338del
ENST00000678320.1:c.*345_*346del	ENSP00000503680.1:n.*345_*346del
ENST00000678655.1:c.1093-1796_1093-1795del	ENSP00000504230.1:n.1093-1796_1093-1795del
ENST00000678706.1:c.*1069_*1070del	ENSP00000503659.1:n.*1069_*1070del
ENST00000678776.1:c.*1829_*1830del	ENSP00000504624.1:n.*1829_*1830del
ENST00000678784.1:c.1073-1796_1073-1795del	ENSP00000504652.1:n.1073-1796_1073-1795del
ENST00000678820.1:c.1090-1796_1090-1795del	ENSP00000504138.1:n.1090-1796_1090-1795del
ENST00000678835.1:c.*757-1796_*757-1795del	ENSP00000504343.1:n.*757-1796_*757-1795del
ENST00000679088.1:c.*345_*346del	ENSP00000504727.1:n.*345_*346del
ENST00000679098.1:c.*8+337_*8+338del	ENSP00000504303.1:n.*8+337_*8+338del
ENST00000366782.5:c.*345_*346del	ENSP00000355746.1:n.*345_*346del
ENST00000366783.7:c.*345_*346del	ENSP00000355747.3:n.*345_*346del
ENST00000626989.2:c.1791_1792del	ENSP00000486498.1:n.1791_1792del
NM_000447.2:c.*345_*346del	NP_000438.2:n.*345_*346del
NM_012486.2:c.*345_*346del	NP_036618.2:n.*345_*346del
XM_005273199.2:c.*345_*346del	XP_005273256.1:n.*345_*346del
XM_011544236.1:c.*345_*346del	XP_011542538.1:n.*345_*346del
XM_005273199.4:c.*345_*346del	XP_005273256.1:n.*345_*346del
XM_017001835.1:c.*345_*346del	XP_016857324.1:n.*345_*346del
XM_017001836.1:c.*345_*346del	XP_016857325.1:n.*345_*346del
XR_001737316.2:n.1478-1796_1478-1795del
XR_001737317.2:n.1478-1796_1478-1795del
XR_001737318.2:n.2407_2408del
XR_001737319.1:n.2750_2751del
XR_001737320.1:n.2747_2748del
XR_001737321.1:n.2242_2243del
XR_949149.2:n.2404_2405del
XR_949150.3:n.2623_2624del
NM_000447.3:c.*345_*346del MANE Select	NP_000438.2:n.*345_*346del
NM_012486.3:c.*345_*346del	NP_036618.2:n.*345_*346del