Canonical Allele Identifier: CA529440015
Gene: PSEN2 HGNC NCBI

Linked Data

dbSNP Id: rs1468473658

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.226885625_226885630dup , CM000663.2:g.226885625_226885630dup GRCh38
NC_000001.10:g.227073326_227073331dup , CM000663.1:g.227073326_227073331dup GRCh37
NC_000001.9:g.225139949_225139954dup NCBI36
NG_007381.1:g.20054_20059dup
NG_007381.2:g.20442_20447dup

Transcript Alleles

HGVS Amino-acid change
ENST00000366779.6:c.444_449dup ENSP00000355741.2:p.Val150_Val151insIleVa...
ENST00000366782.6:c.444_449dup ENSP00000355746.2:p.Val150_Val151insIleVa...
ENST00000366783.8:c.444_449dup MANE Select ENSP00000355747.3:p.Val150_Val151insIleVa...
ENST00000524196.6:c.444_449dup ENSP00000429036.2:p.Val150_Val151insIleVa...
ENST00000626989.3:c.444_449dup ENSP00000486498.2:p.Val150_Val151insIleVa...
ENST00000676467.1:c.*274_*279dup ENSP00000504294.1:p.=
ENST00000676747.1:c.444_449dup ENSP00000503244.1:p.Val150_Val151insIleVa...
ENST00000676840.1:c.444_449dup ENSP00000504318.1:p.Val150_Val151insIleVa...
ENST00000676884.1:c.444_449dup ENSP00000503200.1:p.Val150_Val151insIleVa...
ENST00000676888.1:c.444_449dup ENSP00000504483.1:p.Val150_Val151insIleVa...
ENST00000676907.1:c.*23_*28dup ENSP00000504410.1:p.=
ENST00000676945.1:c.444_449dup ENSP00000504433.1:p.Val150_Val151insIleVa...
ENST00000677065.1:n.1005_1010dup
ENST00000677414.1:c.444_449dup ENSP00000503116.1:p.Val150_Val151insIleVa...
ENST00000677529.1:n.882_887dup
ENST00000677596.1:c.*351_*356dup ENSP00000503618.1:p.=
ENST00000677599.1:c.444_449dup ENSP00000503673.1:p.Val150_Val151insIleVa...
ENST00000677748.1:n.882_887dup
ENST00000677880.1:c.12_17dup ENSP00000503121.1:p.Val6_Val7insIleVal
ENST00000678021.1:c.*67_*72dup ENSP00000504674.1:p.=
ENST00000678233.1:c.444_449dup ENSP00000504728.1:p.Val150_Val151insIleVa...
ENST00000678320.1:c.444_449dup ENSP00000503680.1:p.Val150_Val151insIleVa...
ENST00000678655.1:c.444_449dup ENSP00000504230.1:p.Val150_Val151insIleVa...
ENST00000678706.1:c.444_449dup ENSP00000503659.1:p.Val150_Val151insIleVa...
ENST00000678776.1:c.*274_*279dup ENSP00000504624.1:p.=
ENST00000678784.1:c.444_449dup ENSP00000504652.1:p.Val150_Val151insIleVa...
ENST00000678820.1:c.444_449dup ENSP00000504138.1:p.Val150_Val151insIleVa...
ENST00000678835.1:c.444_449dup ENSP00000504343.1:p.Val150_Val151insIleVa...
ENST00000679088.1:c.444_449dup ENSP00000504727.1:p.Val150_Val151insIleVa...
ENST00000679098.1:c.444_449dup ENSP00000504303.1:p.Val150_Val151insIleVa...
ENST00000366782.5:c.543_548dup ENSP00000355746.1:p.Val183_Val184insIleVa...
ENST00000366783.7:c.444_449dup ENSP00000355747.3:p.Val150_Val151insIleVa...
ENST00000422240.6:c.444_449dup ENSP00000403737.2:p.Val150_Val151insIleVa...
ENST00000460775.5:c.-21-2466_-21-2461dup ENSP00000427912.1:p.=
ENST00000472139.2:c.12_17dup ENSP00000427806.1:p.Val6_Val7insIleVal
ENST00000626989.2:n.543_548dup ENSP00000486498.1:p.Val183_Val184insIleVa...
NM_000447.2:c.444_449dup NP_000438.2:p.Val150_Val151insIleVal
NM_012486.2:c.444_449dup NP_036618.2:p.Val150_Val151insIleVal
XM_005273199.2:c.444_449dup XP_005273256.1:p.Val150_Val151insIleVal
XM_011544236.1:c.12_17dup XP_011542538.1:p.Val6_Val7insIleVal
XR_949149.1:n.871_876dup
XR_949150.1:n.871_876dup
XM_005273199.4:c.444_449dup XP_005273256.1:p.Val150_Val151insIleVal
XM_017001835.1:c.444_449dup XP_016857324.1:p.Val150_Val151insIleVal
XM_017001836.1:c.444_449dup XP_016857325.1:p.Val150_Val151insIleVal
XR_001737316.2:n.849_854dup
XR_001737317.2:n.849_854dup
XR_001737318.2:n.849_854dup
XR_001737319.1:n.1192_1197dup
XR_001737320.1:n.1192_1197dup
XR_001737321.1:n.684_689dup
XR_949149.2:n.849_854dup
XR_949150.3:n.849_854dup
NM_000447.3:c.444_449dup MANE Select NP_000438.2:p.Val150_Val151insIleVal
NM_012486.3:c.444_449dup NP_036618.2:p.Val150_Val151insIleVal