PSEN2 presenilin 2

Information
Symbol
PSEN2
Type
protein-coding
Description
presenilin 2
Entrez Gene ID
5664
Genome
hg19
Position
chr1:227,058,301-227,083,789
Genome
hg38
Position
chr1:226,870,600-226,896,088
MIM
600759 OMIM
HGNC
HGNC:9509 HGNC
Ensembl
ENSG00000143801 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 2 12
Likely pathogenic 0 4
Benign 24 100
Likely benign 0 202
Conflicting classifications of pathogenicity 0 34
other 67 0
Uncertain significance 0 228
Ranking
ClinVar
0
0
108
394
10
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
TypeID
SYNONYM AD3L
SYNONYM AD4
SYNONYM CMD1V
SYNONYM PS2
SYNONYM STM2
MIM 600759 OMIM
HGNC HGNC:9509 HGNC
Ensembl ENSG00000143801 Ensembl
AllianceGenome HGNC:9509
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000678320.1 hg38 chr1 226,870,561 226,896,086 25,526
ENST00000676945.1 hg38 chr1 226,870,561 226,918,055 47,495
ENST00000366783.8 hg38 chr1 226,870,616 226,896,098 25,483
ENST00000366782.6 hg38 chr1 226,871,268 226,896,098 24,831
ENST00000472139.2 hg38 chr1 226,884,623 226,895,691 11,069
ENST00000677414.1 hg38 chr1 226,870,568 226,896,088 25,521
ENST00000677880.1 hg38 chr1 226,870,616 226,896,086 25,471
ENST00000422240.6 hg38 chr1 226,870,620 226,895,803 25,184
ENST00000679088.1 hg38 chr1 226,870,600 226,896,088 25,489
ENST00000677599.1 hg38 chr1 226,870,561 226,922,155 51,595
ENST00000626989.3 hg38 chr1 226,880,655 226,896,088 15,434
ENST00000366782.6 hg19 chr1 227,058,969 227,083,799 24,831
ENST00000366783.8 hg19 chr1 227,058,317 227,083,799 25,483
ENST00000422240.6 hg19 chr1 227,058,321 227,083,504 25,184
ENST00000472139.2 hg19 chr1 227,072,324 227,083,392 11,069
ENST00000626989.3 hg19 chr1 227,068,356 227,083,789 15,434
ENST00000679088.1 hg19 chr1 227,058,301 227,083,789 25,489
ENST00000678320.1 hg19 chr1 227,058,262 227,083,787 25,526
ENST00000676945.1 hg19 chr1 227,058,262 227,105,756 47,495
ENST00000677599.1 hg19 chr1 227,058,262 227,109,856 51,595
ENST00000677414.1 hg19 chr1 227,058,269 227,083,789 25,521
ENST00000677880.1 hg19 chr1 227,058,317 227,083,787 25,471
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