Canonical Allele Identifier: CA2650783705
Gene: PSEN2 HGNC NCBI

Linked Data

gnomAD v4: 1-226870467-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.226870467G>A , CM000663.2:g.226870467G>A GRCh38
NC_000001.10:g.227058168G>A , CM000663.1:g.227058168G>A GRCh37
NC_000001.9:g.225124791G>A NCBI36
NG_007381.1:g.4896G>A
NG_007381.2:g.5284G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000366779.6:c.-388G>A ENSP00000355741.2:n.-388G>A
ENST00000524196.6:c.-388G>A ENSP00000429036.2:n.-388G>A
ENST00000676884.1:c.-388G>A ENSP00000503200.1:n.-388G>A
ENST00000676888.1:c.-388G>A ENSP00000504483.1:n.-388G>A
ENST00000524196.5:c.-388G>A ENSP00000429036.1:n.-388G>A
XR_949226.1:n.53C>T
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