Canonical Allele Identifier: CA2650783735
Gene: PSEN2 HGNC NCBI

Linked Data

gnomAD v4: 1-226870496-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.226870496G>T , CM000663.2:g.226870496G>T GRCh38
NC_000001.10:g.227058197G>T , CM000663.1:g.227058197G>T GRCh37
NC_000001.9:g.225124820G>T NCBI36
NG_007381.1:g.4925G>T
NG_007381.2:g.5313G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000366779.6:c.-359G>T ENSP00000355741.2:n.-359G>T
ENST00000524196.6:c.-359G>T ENSP00000429036.2:n.-359G>T
ENST00000676884.1:c.-359G>T ENSP00000503200.1:n.-359G>T
ENST00000676888.1:c.-359G>T ENSP00000504483.1:n.-359G>T
ENST00000524196.5:c.-359G>T ENSP00000429036.1:n.-359G>T
XR_949226.1:n.24C>A
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