Canonical Allele Identifier: CA732340278
Gene: PSEN2 HGNC NCBI

Linked Data

dbSNP Id: rs1366586316
gnomAD v3: 1-226870478-C-T
gnomAD v4: 1-226870478-C-T
MyVariant Identifiers: chr1:g.227058179C>T (hg19) chr1:g.226870478C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.226870478C>T , CM000663.2:g.226870478C>T GRCh38
NC_000001.10:g.227058179C>T , CM000663.1:g.227058179C>T GRCh37
NC_000001.9:g.225124802C>T NCBI36
NG_007381.1:g.4907C>T
NG_007381.2:g.5295C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000366779.6:c.-377C>T ENSP00000355741.2:n.-377C>T
ENST00000524196.6:c.-377C>T ENSP00000429036.2:n.-377C>T
ENST00000676884.1:c.-377C>T ENSP00000503200.1:n.-377C>T
ENST00000676888.1:c.-377C>T ENSP00000504483.1:n.-377C>T
ENST00000524196.5:c.-377C>T ENSP00000429036.1:n.-377C>T
XR_949226.1:n.42G>A
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