Canonical Allele Identifier: CA2650786454

Gene: PSEN2

Linked Data

• gnomAD v4: 1-226888854-GCCA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226888855_226888857del , CM000663.2:g.226888855_226888857del	GRCh38
NC_000001.10:g.227076556_227076558del , CM000663.1:g.227076556_227076558del	GRCh37
NC_000001.9:g.225143179_225143181del	NCBI36
NG_007381.1:g.23284_23286del
NG_007381.2:g.23672_23674del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.593_595del	ENSP00000355741.2:p.Ala198_Met199delinsVal
ENST00000366782.6:c.593_595del	ENSP00000355746.2:p.Ala198_Met199delinsVal
ENST00000366783.8:c.593_595del MANE Select	ENSP00000355747.3:p.Ala198_Met199delinsVal
ENST00000524196.6:c.593_595del	ENSP00000429036.2:p.Ala198_Met199delinsVal
ENST00000626989.3:c.593_595del	ENSP00000486498.2:p.Ala198_Met199delinsVal
ENST00000676467.1:c.*423_*425del	ENSP00000504294.1:n.*423_*425del
ENST00000676747.1:c.593_595del	ENSP00000503244.1:p.Ala198_Met199delinsVal
ENST00000676840.1:c.593_595del	ENSP00000504318.1:p.Ala198_Met199delinsVal
ENST00000676884.1:c.593_595del	ENSP00000503200.1:p.Ala198_Met199delinsVal
ENST00000676888.1:c.593_595del	ENSP00000504483.1:p.Ala198_Met199delinsVal
ENST00000676907.1:c.*172_*174del	ENSP00000504410.1:n.*172_*174del
ENST00000676945.1:c.593_595del	ENSP00000504433.1:p.Ala198_Met199delinsVal
ENST00000677065.1:n.1154_1156del
ENST00000677414.1:c.593_595del	ENSP00000503116.1:p.Ala198_Met199delinsVal
ENST00000677529.1:n.1031_1033del
ENST00000677596.1:c.*500_*502del	ENSP00000503618.1:n.*500_*502del
ENST00000677599.1:c.593_595del	ENSP00000503673.1:p.Ala198_Met199delinsVal
ENST00000677748.1:n.1031_1033del
ENST00000677880.1:c.161_163del	ENSP00000503121.1:p.Ala54_Met55delinsVal
ENST00000678021.1:c.*216_*218del	ENSP00000504674.1:n.*216_*218del
ENST00000678233.1:c.593_595del	ENSP00000504728.1:p.Ala198_Met199delinsVal
ENST00000678320.1:c.593_595del	ENSP00000503680.1:p.Ala198_Met199delinsVal
ENST00000678655.1:c.593_595del	ENSP00000504230.1:p.Ala198_Met199delinsVal
ENST00000678706.1:c.593_595del	ENSP00000503659.1:p.Ala198_Met199delinsVal
ENST00000678776.1:c.*423_*425del	ENSP00000504624.1:n.*423_*425del
ENST00000678784.1:c.593_595del	ENSP00000504652.1:p.Ala198_Met199delinsVal
ENST00000678820.1:c.593_595del	ENSP00000504138.1:p.Ala198_Met199delinsVal
ENST00000678835.1:c.593_595del	ENSP00000504343.1:p.Ala198_Met199delinsVal
ENST00000679088.1:c.593_595del	ENSP00000504727.1:p.Ala198_Met199delinsVal
ENST00000679098.1:c.593_595del	ENSP00000504303.1:p.Ala198_Met199delinsVal
ENST00000366782.5:c.692_694del	ENSP00000355746.1:p.Ala231_Met232delinsVal
ENST00000366783.7:c.593_595del	ENSP00000355747.3:p.Ala198_Met199delinsVal
ENST00000422240.6:c.593_595del	ENSP00000403737.2:p.Ala198_Met199delinsVal
ENST00000460775.5:c.74_76del	ENSP00000427912.1:p.Ala25_Met26delinsVal
ENST00000472139.2:c.161_163del	ENSP00000427806.1:p.Ala54_Met55delinsVal
ENST00000626989.2:c.692_694del	ENSP00000486498.1:p.Ala231_Met232delinsVal
NM_000447.2:c.593_595del	NP_000438.2:p.Ala198_Met199delinsVal
NM_012486.2:c.593_595del	NP_036618.2:p.Ala198_Met199delinsVal
XM_005273199.2:c.593_595del	XP_005273256.1:p.Ala198_Met199delinsVal
XM_011544236.1:c.161_163del	XP_011542538.1:p.Ala54_Met55delinsVal
XR_949149.1:n.1020_1022del
XR_949150.1:n.1020_1022del
XM_005273199.4:c.593_595del	XP_005273256.1:p.Ala198_Met199delinsVal
XM_017001835.1:c.593_595del	XP_016857324.1:p.Ala198_Met199delinsVal
XM_017001836.1:c.593_595del	XP_016857325.1:p.Ala198_Met199delinsVal
XR_001737316.2:n.998_1000del
XR_001737317.2:n.998_1000del
XR_001737318.2:n.998_1000del
XR_001737319.1:n.1341_1343del
XR_001737320.1:n.1341_1343del
XR_001737321.1:n.833_835del
XR_949149.2:n.998_1000del
XR_949150.3:n.998_1000del
NM_000447.3:c.593_595del MANE Select	NP_000438.2:p.Ala198_Met199delinsVal
NM_012486.3:c.593_595del	NP_036618.2:p.Ala198_Met199delinsVal