Canonical Allele Identifier: CA2650783722
Gene: PSEN2 HGNC NCBI

Linked Data

gnomAD v4: 1-226870484-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.226870484C>T , CM000663.2:g.226870484C>T GRCh38
NC_000001.10:g.227058185C>T , CM000663.1:g.227058185C>T GRCh37
NC_000001.9:g.225124808C>T NCBI36
NG_007381.1:g.4913C>T
NG_007381.2:g.5301C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000366779.6:c.-371C>T ENSP00000355741.2:n.-371C>T
ENST00000524196.6:c.-371C>T ENSP00000429036.2:n.-371C>T
ENST00000676884.1:c.-371C>T ENSP00000503200.1:n.-371C>T
ENST00000676888.1:c.-371C>T ENSP00000504483.1:n.-371C>T
ENST00000524196.5:c.-371C>T ENSP00000429036.1:n.-371C>T
XR_949226.1:n.36G>A
Search 100 bp 5'
Search 100 bp 3'