Canonical Allele Identifier: CA39089918

Gene: PSEN2

Linked Data

• dbSNP Id: rs758016212
• gnomAD v2: 1-227058219-T-C
• gnomAD v3: 1-226870518-T-C
• gnomAD v4: 1-226870518-T-C
• MyVariant Identifiers: chr1:g.227058219T>C (hg19) ; chr1:g.226870518T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226870518T>C , CM000663.2:g.226870518T>C	GRCh38
NC_000001.10:g.227058219T>C , CM000663.1:g.227058219T>C	GRCh37
NC_000001.9:g.225124842T>C	NCBI36
NG_007381.1:g.4947T>C
NG_007381.2:g.5335T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.-350+13T>C	ENSP00000355741.2:n.-350+13T>C
ENST00000524196.6:c.-350+13T>C	ENSP00000429036.2:n.-350+13T>C
ENST00000676884.1:c.-350+13T>C	ENSP00000503200.1:n.-350+13T>C
ENST00000676888.1:c.-350+13T>C	ENSP00000504483.1:n.-350+13T>C
ENST00000678835.1:c.-481T>C	ENSP00000504343.1:n.-481T>C
ENST00000524196.5:c.-350+13T>C	ENSP00000429036.1:n.-350+13T>C
XR_949226.1:n.2A>G