Canonical Allele Identifier: CA2650783707
Gene: PSEN2 HGNC NCBI

Linked Data

gnomAD v4: 1-226870468-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.226870468G>T , CM000663.2:g.226870468G>T GRCh38
NC_000001.10:g.227058169G>T , CM000663.1:g.227058169G>T GRCh37
NC_000001.9:g.225124792G>T NCBI36
NG_007381.1:g.4897G>T
NG_007381.2:g.5285G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000366779.6:c.-387G>T ENSP00000355741.2:n.-387G>T
ENST00000524196.6:c.-387G>T ENSP00000429036.2:n.-387G>T
ENST00000676884.1:c.-387G>T ENSP00000503200.1:n.-387G>T
ENST00000676888.1:c.-387G>T ENSP00000504483.1:n.-387G>T
ENST00000524196.5:c.-387G>T ENSP00000429036.1:n.-387G>T
XR_949226.1:n.52C>A
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