Human (GRCh37.p13)
Description

presenilin 2 (Alzheimer disease 4) [Source:HGNC Symbol;Acc:9509]

Gene Synonyms

AD3L, AD4, CMD1V, PS2, PSNL2, STM2

Location

Chromosome 1: 227,057,885-227,083,806 forward strand.

GRCh37:CM000663.1

About this gene

This gene has 13 transcripts (splice variants), 1 paralogue and is associated with 4 phenotypes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeqFlags
ENST00000366782.1PSEN2-0022465481aaENSP00000355746.1
 
Protein coding
B1AP22 B4DVM3 E5RFW4
E5RG63 E5RHT1 E5RJM5
-GENCODE basic
ENST00000366783.3PSEN2-0012302448aaENSP00000355747.3
 
Protein coding
CCDS1556B4DVM3 E5RFW4 E5RG63
E5RHT1 E5RJM5 P49810
NM_012486.2GENCODE basic
ENST00000340188.4PSEN2-2012201415aaENSP00000339860.4
 
Protein coding
C9J5P7 E5RHT1 E5RJM5
-GENCODE basic
ENST00000391872.2PSEN2-2021972481aaENSP00000375745.2
 
Protein coding
B1AP22 B4DVM3 E5RFW4
E5RG63 E5RHT1 E5RJM5
-GENCODE basic
ENST00000422240.2PSEN2-0071947447aaENSP00000403737.2
 
Protein coding
CCDS44324E5RFW4 E5RHT1 E5RJM5
P49810
-GENCODE basic
ENST00000472139.2PSEN2-0061163304aaENSP00000427806.1
 
Protein coding
E5RFW4 E5RG63 -GENCODE basic
ENST00000460775.1PSEN2-005782144aaENSP00000427912.1
 
Protein coding
E5RFW4 -CDS 3' incomplete
ENST00000524196.1PSEN2-01073421aaENSP00000429036.1
 
Protein coding
E5RJM5 -CDS 3' incomplete
ENST00000495488.1PSEN2-004627129aaENSP00000429682.1
 
Protein coding
E5RHT1 E5RJM5 -CDS 3' incomplete
ENST00000496965.1PSEN2-0031614360aaENSP00000430647.1
 
Nonsense mediated decay
E5RFW4 E5RHT1 E5RJ26
E5RJM5
--
ENST00000471728.1PSEN2-009570No protein-
 
Processed transcript
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ENST00000487450.1PSEN2-008566No protein-
 
Processed transcript
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ENST00000521431.1PSEN2-011730No protein-
 
Retained intron
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