Canonical Allele Identifier: CA10610258

Gene: PSEN2

Linked Data

• ClinVar Variation Id: 295979
• ClinVar RCV Id: RCV000339828 ; RCV000404953
• dbSNP Id: rs186308126
• gnomAD v2: 1-227058300-C-T
• gnomAD v3: 1-226870599-C-T
• gnomAD v4: 1-226870599-C-T
• MyVariant Identifiers: chr1:g.227058300C>T (hg19) ; chr1:g.226870599C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226870599C>T , CM000663.2:g.226870599C>T	GRCh38
NC_000001.10:g.227058300C>T , CM000663.1:g.227058300C>T	GRCh37
NC_000001.9:g.225124923C>T	NCBI36
NG_007381.1:g.5028C>T
NG_007381.2:g.5416C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000366779.6:c.-350+94C>T	ENSP00000355741.2:n.-350+94C>T
ENST00000524196.6:c.-350+94C>T	ENSP00000429036.2:n.-350+94C>T
ENST00000676840.1:c.-400C>T	ENSP00000504318.1:n.-400C>T
ENST00000676884.1:c.-350+94C>T	ENSP00000503200.1:n.-350+94C>T
ENST00000676888.1:c.-350+94C>T	ENSP00000504483.1:n.-350+94C>T
ENST00000676907.1:c.-400C>T	ENSP00000504410.1:n.-400C>T
ENST00000676945.1:c.-400C>T	ENSP00000504433.1:n.-400C>T
ENST00000677414.1:c.-257C>T	ENSP00000503116.1:n.-257C>T
ENST00000677529.1:n.39C>T
ENST00000677599.1:c.-400C>T	ENSP00000503673.1:n.-400C>T
ENST00000677748.1:n.39C>T
ENST00000678233.1:c.-400C>T	ENSP00000504728.1:n.-400C>T
ENST00000678320.1:c.-400C>T	ENSP00000503680.1:n.-400C>T
ENST00000678655.1:c.-400C>T	ENSP00000504230.1:n.-400C>T
ENST00000678706.1:c.-400C>T	ENSP00000503659.1:n.-400C>T
ENST00000678784.1:c.-400C>T	ENSP00000504652.1:n.-400C>T
ENST00000678820.1:c.-400C>T	ENSP00000504138.1:n.-400C>T
ENST00000678835.1:c.-400C>T	ENSP00000504343.1:n.-400C>T
ENST00000679098.1:c.-400C>T	ENSP00000504303.1:n.-400C>T
ENST00000366783.7:c.-400C>T	ENSP00000355747.3:n.-400C>T
ENST00000524196.5:c.-350+94C>T	ENSP00000429036.1:n.-350+94C>T
NM_000447.2:c.-400C>T	NP_000438.2:n.-400C>T
NM_012486.2:c.-400C>T	NP_036618.2:n.-400C>T
XR_949149.1:n.28C>T
XR_949150.1:n.28C>T
XR_001737316.2:n.6C>T
XR_001737317.2:n.6C>T
XR_001737318.2:n.6C>T
XR_949149.2:n.6C>T
XR_949150.3:n.6C>T