This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: PSEN2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Transcript change
ENSP00000427912.1:p.Trp36Cys
ENST00000460775.5:c.[108G>C;111C>T]

ENST00000460775.5:c.[108G>C;112T=]

ENST00000460775.5:c.[108G>C;114C=]

ENST00000460775.5:c.[108G>C;114C>T]

ENST00000460775.5:c.[108G>C;115G=]

ENST00000460775.5:c.[108G>C;117G>A]

ENST00000460775.5:c.[108G>C;117G>C]

ENST00000460775.5:c.[108G>C;117G>T]

ENST00000460775.5:c.[108G>C;118G=]

ENST00000460775.5:c.[108G>C;120A=]

ENST00000460775.5:c.[108G>C;120A>C]

ENST00000460775.5:c.[108G>C;120A>G]

ENST00000460775.5:c.[108G>C;120A>T]

ENST00000460775.5:c.[108G>C;121G=]

ENST00000460775.5:c.[108G>C;123G>A]

ENST00000460775.5:c.[108G>C;123G>C]

ENST00000460775.5:c.[108G>C;123G=]

ENST00000460775.5:c.[108G>C;123G>T]

ENST00000460775.5:c.[108G>C;125G=]

ENST00000460775.5:c.[108G>C;126C>A]

ENST00000460775.5:c.[108G>C;126C>G]

ENST00000460775.5:c.[108G>C;126C>T]

ENST00000460775.5:c.[108G>C;132G>A]

ENST00000460775.5:c.[108G>C;132G>C]

ENST00000460775.5:c.[108G>C;132G>T]

ENST00000460775.5:c.[108G>C;132_163delins...

ENST00000460775.5:c.[108G>C;134G=]

ENST00000460775.5:c.[108G>C;135C=]

ENST00000460775.5:c.[108G>C;135C>T]

ENST00000460775.5:c.[108G>C;136A=]

ENST00000460775.5:c.[108G>C;137T=]

ENST00000460775.5:c.[108G>C;138C>A]

ENST00000460775.5:c.[108G>C;138C>T]

ENST00000460775.5:c.[108G>C;141C>T]

ENST00000460775.5:c.[108G>C;146A=]

ENST00000460775.5:c.[108G>C;147G>A]

ENST00000460775.5:c.[108G>C;150C>A]

ENST00000460775.5:c.[108G>C;150C>G]

ENST00000460775.5:c.[108G>C;150C>T]

ENST00000460775.5:c.[108G>C;153T>A]

ENST00000460775.5:c.[108G>C;153T>C]

ENST00000460775.5:c.[108G>C;153T>G]

ENST00000460775.5:c.[108G>C;154C=]

ENST00000460775.5:c.[108G>C;154C>T]

ENST00000460775.5:c.[108G>C;155T=]

ENST00000460775.5:c.[108G>C;156G>A]

ENST00000460775.5:c.[108G>C;156G>C]

ENST00000460775.5:c.[108G>C;156G=]

ENST00000460775.5:c.[108G>C;156G>T]

ENST00000460775.5:c.[108G>C;158T=]

ENST00000460775.5:c.[108G>C;159G>A]

ENST00000460775.5:c.[108G>C;159G>C]

ENST00000460775.5:c.[108G>C;159G>T]

ENST00000460775.5:c.[108G>C;160C>T]

ENST00000460775.5:c.[108G>C;162G>A]

ENST00000460775.5:c.[108G>C;162G>C]

ENST00000460775.5:c.[108G>C;162G>T]

ENST00000460775.5:c.[108G>C;163C=]

ENST00000460775.5:c.[108G>C;164A=]

ENST00000460775.5:c.[108G>C;165G>A]

ENST00000460775.5:c.[108G>C;168G>A]

ENST00000460775.5:c.[108G>C;171C>A]

ENST00000460775.5:c.[108G>C;171C=]

ENST00000460775.5:c.[108G>C;171C>G]

ENST00000460775.5:c.[108G>C;171C>T]

ENST00000460775.5:c.[108G>C;173A=]

ENST00000460775.5:c.[108G>C;174C>T]

ENST00000460775.5:c.[108G>C;175C>T;177C>A...

ENST00000460775.5:c.[108G>C;175C>T;177C>G...

ENST00000460775.5:c.[108G>C;177C>A]

ENST00000460775.5:c.[108G>C;177C=]

ENST00000460775.5:c.[108G>C;177C>G]

ENST00000460775.5:c.[108G>C;177C>T]

ENST00000460775.5:c.[108G>C;178A=]

ENST00000460775.5:c.[108G>C;180C>A]

ENST00000460775.5:c.[108G>C;180C=]

ENST00000460775.5:c.[108G>C;180C>T]

ENST00000460775.5:c.[108G>C;182T=]

ENST00000460775.5:c.[108G>C;183G=]

ENST00000460775.5:c.[108G>C;186C>A]

ENST00000460775.5:c.[108G>C;186C=]

ENST00000460775.5:c.[108G>C;186C>T]

ENST00000460775.5:c.[108G>C;189T>C]

ENST00000460775.5:c.[108G>C;189T=]

ENST00000460775.5:c.[108G>T;111C>T]

ENST00000460775.5:c.[108G>T;112T=]

ENST00000460775.5:c.[108G>T;114C=]

ENST00000460775.5:c.[108G>T;114C>T]

ENST00000460775.5:c.[108G>T;115G=]

ENST00000460775.5:c.[108G>T;117G>A]

ENST00000460775.5:c.[108G>T;117G>C]

ENST00000460775.5:c.[108G>T;117G>T]

ENST00000460775.5:c.[108G>T;118G=]

ENST00000460775.5:c.[108G>T;120A=]

ENST00000460775.5:c.[108G>T;120A>C]

ENST00000460775.5:c.[108G>T;120A>G]

ENST00000460775.5:c.[108G>T;120A>T]

ENST00000460775.5:c.[108G>T;121G=]

ENST00000460775.5:c.[108G>T;123G>A]

ENST00000460775.5:c.[108G>T;123G>C]

ENST00000460775.5:c.[108G>T;123G=]

ENST00000460775.5:c.[108G>T;123G>T]

ENST00000460775.5:c.[108G>T;125G=]

ENST00000460775.5:c.[108G>T;126C>A]

ENST00000460775.5:c.[108G>T;126C>G]

ENST00000460775.5:c.[108G>T;126C>T]

ENST00000460775.5:c.[108G>T;132G>A]

ENST00000460775.5:c.[108G>T;132G>C]

ENST00000460775.5:c.[108G>T;132G>T]

ENST00000460775.5:c.[108G>T;132_163delins...

ENST00000460775.5:c.[108G>T;134G=]

ENST00000460775.5:c.[108G>T;135C=]

ENST00000460775.5:c.[108G>T;135C>T]

ENST00000460775.5:c.[108G>T;136A=]

ENST00000460775.5:c.[108G>T;137T=]

ENST00000460775.5:c.[108G>T;138C>A]

ENST00000460775.5:c.[108G>T;138C>T]

ENST00000460775.5:c.[108G>T;141C>T]

ENST00000460775.5:c.[108G>T;146A=]

ENST00000460775.5:c.[108G>T;147G>A]

ENST00000460775.5:c.[108G>T;150C>A]

ENST00000460775.5:c.[108G>T;150C>G]

ENST00000460775.5:c.[108G>T;150C>T]

ENST00000460775.5:c.[108G>T;153T>A]

ENST00000460775.5:c.[108G>T;153T>C]

ENST00000460775.5:c.[108G>T;153T>G]

ENST00000460775.5:c.[108G>T;154C=]

ENST00000460775.5:c.[108G>T;154C>T]

ENST00000460775.5:c.[108G>T;155T=]

ENST00000460775.5:c.[108G>T;156G>A]

ENST00000460775.5:c.[108G>T;156G>C]

ENST00000460775.5:c.[108G>T;156G=]

ENST00000460775.5:c.[108G>T;156G>T]

ENST00000460775.5:c.[108G>T;158T=]

ENST00000460775.5:c.[108G>T;159G>A]

ENST00000460775.5:c.[108G>T;159G>C]

ENST00000460775.5:c.[108G>T;159G>T]

ENST00000460775.5:c.[108G>T;160C>T]

ENST00000460775.5:c.[108G>T;162G>A]

ENST00000460775.5:c.[108G>T;162G>C]

ENST00000460775.5:c.[108G>T;162G>T]

ENST00000460775.5:c.[108G>T;163C=]

ENST00000460775.5:c.[108G>T;164A=]

ENST00000460775.5:c.[108G>T;165G>A]

ENST00000460775.5:c.[108G>T;168G>A]

ENST00000460775.5:c.[108G>T;171C>A]

ENST00000460775.5:c.[108G>T;171C=]

ENST00000460775.5:c.[108G>T;171C>G]

ENST00000460775.5:c.[108G>T;171C>T]

ENST00000460775.5:c.[108G>T;173A=]

ENST00000460775.5:c.[108G>T;174C>T]

ENST00000460775.5:c.[108G>T;175C>T;177C>A...

ENST00000460775.5:c.[108G>T;175C>T;177C>G...

ENST00000460775.5:c.[108G>T;177C>A]

ENST00000460775.5:c.[108G>T;177C=]

ENST00000460775.5:c.[108G>T;177C>G]

ENST00000460775.5:c.[108G>T;177C>T]

ENST00000460775.5:c.[108G>T;178A=]

ENST00000460775.5:c.[108G>T;180C>A]

ENST00000460775.5:c.[108G>T;180C=]

ENST00000460775.5:c.[108G>T;180C>T]

ENST00000460775.5:c.[108G>T;182T=]

ENST00000460775.5:c.[108G>T;183G=]

ENST00000460775.5:c.[108G>T;186C>A]

ENST00000460775.5:c.[108G>T;186C=]

ENST00000460775.5:c.[108G>T;186C>T]

ENST00000460775.5:c.[108G>T;189T>C]

ENST00000460775.5:c.[108G>T;189T=]