Canonical Allele Identifier: CA529438947
Gene: PSEN2 HGNC NCBI

Linked Data

dbSNP Id: rs1475277780
gnomAD v2: 1-227058226-G-A
gnomAD v3: 1-226870525-G-A
gnomAD v4: 1-226870525-G-A
MyVariant Identifiers: chr1:g.227058226G>A (hg19) chr1:g.226870525G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.226870525G>A , CM000663.2:g.226870525G>A GRCh38
NC_000001.10:g.227058226G>A , CM000663.1:g.227058226G>A GRCh37
NC_000001.9:g.225124849G>A NCBI36
NG_007381.1:g.4954G>A
NG_007381.2:g.5342G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000366779.6:c.-350+20G>A ENSP00000355741.2:n.-350+20G>A
ENST00000524196.6:c.-350+20G>A ENSP00000429036.2:n.-350+20G>A
ENST00000676884.1:c.-350+20G>A ENSP00000503200.1:n.-350+20G>A
ENST00000676888.1:c.-350+20G>A ENSP00000504483.1:n.-350+20G>A
ENST00000678835.1:c.-474G>A ENSP00000504343.1:n.-474G>A
ENST00000524196.5:c.-350+20G>A ENSP00000429036.1:n.-350+20G>A
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