Canonical Allele Identifier: CA2698194588
Gene: PSEN2 HGNC NCBI

Linked Data

dbSNP Id: rs1660181904

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.226870483T>C , CM000663.2:g.226870483T>C GRCh38
NC_000001.10:g.227058184T>C , CM000663.1:g.227058184T>C GRCh37
NC_000001.9:g.225124807T>C NCBI36
NG_007381.1:g.4912T>C
NG_007381.2:g.5300T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000366779.6:c.-372T>C ENSP00000355741.2:n.-372T>C
ENST00000524196.6:c.-372T>C ENSP00000429036.2:n.-372T>C
ENST00000676884.1:c.-372T>C ENSP00000503200.1:n.-372T>C
ENST00000676888.1:c.-372T>C ENSP00000504483.1:n.-372T>C
ENST00000524196.5:c.-372T>C ENSP00000429036.1:n.-372T>C
XR_949226.1:n.37A>G