Canonical Allele Identifier: CA1225072524
Gene: PSEN2 HGNC NCBI

Linked Data

dbSNP Id: rs1660185132
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.226870502C>A , CM000663.2:g.226870502C>A GRCh38
NC_000001.10:g.227058203C>A , CM000663.1:g.227058203C>A GRCh37
NC_000001.9:g.225124826C>A NCBI36
NG_007381.1:g.4931C>A
NG_007381.2:g.5319C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000366779.6:c.-353C>A ENSP00000355741.2:n.-353C>A
ENST00000524196.6:c.-353C>A ENSP00000429036.2:n.-353C>A
ENST00000676884.1:c.-353C>A ENSP00000503200.1:n.-353C>A
ENST00000676888.1:c.-353C>A ENSP00000504483.1:n.-353C>A
ENST00000524196.5:c.-353C>A ENSP00000429036.1:n.-353C>A
XR_949226.1:n.18G>T
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