Canonical Allele Identifier: CA1424432
Gene: PSEN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 567646
ClinVar RCV Id: RCV000687794
dbSNP Id: rs150400387

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.226883747C>T , CM000663.2:g.226883747C>T GRCh38
NC_000001.10:g.227071448C>T , CM000663.1:g.227071448C>T GRCh37
NC_000001.9:g.225138071C>T NCBI36
NG_007381.1:g.18176C>T
NG_007381.2:g.18564C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000366779.6:c.184C>T ENSP00000355741.2:p.Arg62Cys
ENST00000366782.6:c.184C>T ENSP00000355746.2:p.Arg62Cys
ENST00000366783.8:c.184C>T MANE Select ENSP00000355747.3:p.Arg62Cys
ENST00000524196.6:c.184C>T ENSP00000429036.2:p.Arg62Cys
ENST00000626989.3:c.184C>T ENSP00000486498.2:p.Arg62Cys
ENST00000676467.1:c.*14C>T ENSP00000504294.1:p.=
ENST00000676747.1:c.184C>T ENSP00000503244.1:p.Arg62Cys
ENST00000676840.1:c.184C>T ENSP00000504318.1:p.Arg62Cys
ENST00000676884.1:c.184C>T ENSP00000503200.1:p.Arg62Cys
ENST00000676888.1:c.184C>T ENSP00000504483.1:p.Arg62Cys
ENST00000676907.1:c.184C>T ENSP00000504410.1:p.Arg62Cys
ENST00000676945.1:c.184C>T ENSP00000504433.1:p.Arg62Cys
ENST00000677065.1:n.745C>T
ENST00000677414.1:c.184C>T ENSP00000503116.1:p.Arg62Cys
ENST00000677529.1:n.622C>T
ENST00000677596.1:c.*14C>T ENSP00000503618.1:p.=
ENST00000677599.1:c.184C>T ENSP00000503673.1:p.Arg62Cys
ENST00000677748.1:n.622C>T
ENST00000677880.1:c.-153-1714C>T ENSP00000503121.1:p.=
ENST00000678021.1:c.141+1699C>T ENSP00000504674.1:p.=
ENST00000678233.1:c.184C>T ENSP00000504728.1:p.Arg62Cys
ENST00000678320.1:c.184C>T ENSP00000503680.1:p.Arg62Cys
ENST00000678655.1:c.184C>T ENSP00000504230.1:p.Arg62Cys
ENST00000678706.1:c.184C>T ENSP00000503659.1:p.Arg62Cys
ENST00000678776.1:c.*14C>T ENSP00000504624.1:p.=
ENST00000678784.1:c.184C>T ENSP00000504652.1:p.Arg62Cys
ENST00000678820.1:c.184C>T ENSP00000504138.1:p.Arg62Cys
ENST00000678835.1:c.184C>T ENSP00000504343.1:p.Arg62Cys
ENST00000679088.1:c.184C>T ENSP00000504727.1:p.Arg62Cys
ENST00000679098.1:c.184C>T ENSP00000504303.1:p.Arg62Cys
ENST00000366782.5:c.283C>T ENSP00000355746.1:p.Arg95Cys
ENST00000366783.7:c.184C>T ENSP00000355747.3:p.Arg62Cys
ENST00000422240.6:c.184C>T ENSP00000403737.2:p.Arg62Cys
ENST00000460775.5:c.-21-4344C>T ENSP00000427912.1:p.=
ENST00000495488.5:c.184C>T ENSP00000429682.1:p.Arg62Cys
ENST00000626989.2:n.283C>T ENSP00000486498.1:p.Arg95Cys
NM_000447.2:c.184C>T NP_000438.2:p.Arg62Cys
NM_012486.2:c.184C>T NP_036618.2:p.Arg62Cys
XM_005273199.2:c.184C>T XP_005273256.1:p.Arg62Cys
XM_011544236.1:c.-76-1791C>T XP_011542538.1:p.=
XR_949149.1:n.611C>T
XR_949150.1:n.611C>T
XM_005273199.4:c.184C>T XP_005273256.1:p.Arg62Cys
XM_017001835.1:c.184C>T XP_016857324.1:p.Arg62Cys
XM_017001836.1:c.184C>T XP_016857325.1:p.Arg62Cys
XR_001737316.2:n.589C>T
XR_001737317.2:n.589C>T
XR_001737318.2:n.589C>T
XR_001737319.1:n.932C>T
XR_001737320.1:n.932C>T
XR_001737321.1:n.424C>T
XR_949149.2:n.589C>T
XR_949150.3:n.589C>T
NM_000447.3:c.184C>T MANE Select NP_000438.2:p.Arg62Cys
NM_012486.3:c.184C>T NP_036618.2:p.Arg62Cys