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.Leu68Gln
ENST00000460775.5:c.[203T>A;206T=]

ENST00000460775.5:c.[203T>A;207G>A]

ENST00000460775.5:c.[203T>A;207G>C]

ENST00000460775.5:c.[203T>A;207G>T]

ENST00000460775.5:c.[203T>A;208_211delins...

ENST00000460775.5:c.[203T>A;210C=]

ENST00000460775.5:c.[203T>A;210C>T]

ENST00000460775.5:c.[203T>A;213C>A]

ENST00000460775.5:c.[203T>A;213C=]

ENST00000460775.5:c.[203T>A;213C>T]

ENST00000460775.5:c.[203T>A;215A=]

ENST00000460775.5:c.[203T>A;216G>A]

ENST00000460775.5:c.[203T>A;217T=]

ENST00000460775.5:c.[203T>A;218A=]

ENST00000460775.5:c.[203T>A;219C>T]

ENST00000460775.5:c.[203T>A;220C=]

ENST00000460775.5:c.[203T>A;220C>T;222C>A...

ENST00000460775.5:c.[203T>A;220C>T;222C>G...

ENST00000460775.5:c.[203T>A;221T=]

ENST00000460775.5:c.[203T>A;222C>A]

ENST00000460775.5:c.[203T>A;222C>G]

ENST00000460775.5:c.[203T>A;222C>T]

ENST00000460775.5:c.[203T>A;225A=]

ENST00000460775.5:c.[203T>A;225A>C]

ENST00000460775.5:c.[203T>A;225A>G]

ENST00000460775.5:c.[203T>A;225A>T]

ENST00000460775.5:c.[203T>A;226G=]

ENST00000460775.5:c.[203T>A;228G>A]

ENST00000460775.5:c.[203T>A;233C=]

ENST00000460775.5:c.[203T>A;234C>A]

ENST00000460775.5:c.[203T>A;234C=]

ENST00000460775.5:c.[203T>A;234C>G]

ENST00000460775.5:c.[203T>A;234C>T]

ENST00000460775.5:c.[203T>A;235G=]

ENST00000460775.5:c.[203T>A;236C=]

ENST00000460775.5:c.[203T>A;237G>A]

ENST00000460775.5:c.[203T>A;237G>C]

ENST00000460775.5:c.[203T>A;237G=]

ENST00000460775.5:c.[203T>A;237G>T]

ENST00000460775.5:c.[203T>A;241G=]

ENST00000460775.5:c.[203T>A;243C>A]

ENST00000460775.5:c.[203T>A;243C>G]

ENST00000460775.5:c.[203T>A;243C>T]

ENST00000460775.5:c.[203T>A;244A=]

ENST00000460775.5:c.[203T>A;246C>A]

ENST00000460775.5:c.[203T>A;246C=]

ENST00000460775.5:c.[203T>A;246C>T]

ENST00000460775.5:c.[203T>A;247C>T]

ENST00000460775.5:c.[203T>A;249G>A]

ENST00000460775.5:c.[203T>A;249G>C]

ENST00000460775.5:c.[203T>A;249G>T]

ENST00000460775.5:c.[203T>A;250G=]

ENST00000460775.5:c.[203T>A;251G=]

ENST00000460775.5:c.[203T>A;252C>A]

ENST00000460775.5:c.[203T>A;252C=]

ENST00000460775.5:c.[203T>A;252C>G]

ENST00000460775.5:c.[203T>A;252C>T]

ENST00000460775.5:c.[203T>A;253G=]

ENST00000460775.5:c.[203T>A;254C=]

ENST00000460775.5:c.[203T>A;255C>A]

ENST00000460775.5:c.[203T>A;255C>G]

ENST00000460775.5:c.[203T>A;255C>T]

ENST00000460775.5:c.[203T>A;258C>A]

ENST00000460775.5:c.[203T>A;258C>T]

ENST00000460775.5:c.[203T>A;261T>A]

ENST00000460775.5:c.[203T>A;261T>C]

ENST00000460775.5:c.[203T>A;261T>G]

ENST00000460775.5:c.[203T>A;261_262delins...

ENST00000460775.5:c.[203T>A;262G=]

ENST00000460775.5:c.[203T>A;264G>A]

ENST00000460775.5:c.[203T>A;264G>C]

ENST00000460775.5:c.[203T>A;264G=]

ENST00000460775.5:c.[203T>A;264G>T]

ENST00000460775.5:c.[203T>A;267T>C]

ENST00000460775.5:c.[203T>A;269A=]

ENST00000460775.5:c.[203T>A;270T>C]

ENST00000460775.5:c.[203T>A;271C=]

ENST00000460775.5:c.[203T>A;271C>T;273C>A...

ENST00000460775.5:c.[203T>A;271C>T;273C>G...

ENST00000460775.5:c.[203T>A;273C>A]

ENST00000460775.5:c.[203T>A;273C=]

ENST00000460775.5:c.[203T>A;273C>G]

ENST00000460775.5:c.[203T>A;273C>T]

ENST00000460775.5:c.[203T>A;274G=]

ENST00000460775.5:c.[203T>A;276G>A]

ENST00000460775.5:c.[203T>A;276G>C]

ENST00000460775.5:c.[203T>A;276G=]

ENST00000460775.5:c.[203T>A;276G>T]

ENST00000460775.5:c.[203T>A;279T>A]

ENST00000460775.5:c.[203T>A;279T>C]

ENST00000460775.5:c.[203T>A;279T>G]

ENST00000460775.5:c.[203T>A;279T=]

ENST00000460775.5:c.[203T>A;281T=]

ENST00000460775.5:c.[203T>A;282G>A]

ENST00000460775.5:c.[203T>A;282G>C]

ENST00000460775.5:c.[203T>A;282G=]

ENST00000460775.5:c.[203T>A;282G>T]

ENST00000460775.5:c.[203T>A;283C=]

ENST00000460775.5:c.[203T>A;283C>T]

ENST00000460775.5:c.[203T>A;285G>A]

ENST00000460775.5:c.[203T>A;285G>C]

ENST00000460775.5:c.[203T>A;285G=]

ENST00000460775.5:c.[203T>A;285G>T]