Canonical Allele Identifier: CA2534792927

Gene: PSEN2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226896134C>A , CM000663.2:g.226896134C>A	GRCh38
NC_000001.10:g.227083835C>A , CM000663.1:g.227083835C>A	GRCh37
NC_000001.9:g.225150458C>A	NCBI36
NG_007381.1:g.30563C>A
NG_012825.2:g.3599C>A
NG_007381.2:g.30951C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.*555C>A	ENSP00000355741.2:n.*555C>A
ENST00000524196.6:c.*555C>A	ENSP00000429036.2:n.*555C>A
ENST00000676747.1:c.1189-1586C>A	ENSP00000503244.1:n.1189-1586C>A
ENST00000676884.1:c.*555C>A	ENSP00000503200.1:n.*555C>A
ENST00000676945.1:c.1191+2009C>A	ENSP00000504433.1:n.1191+2009C>A
ENST00000677599.1:c.1191+2009C>A	ENSP00000503673.1:n.1191+2009C>A
ENST00000678233.1:c.*8+547C>A	ENSP00000504728.1:n.*8+547C>A
ENST00000678655.1:c.1093-1586C>A	ENSP00000504230.1:n.1093-1586C>A
ENST00000678784.1:c.1073-1586C>A	ENSP00000504652.1:n.1073-1586C>A
ENST00000678820.1:c.1090-1586C>A	ENSP00000504138.1:n.1090-1586C>A
ENST00000678835.1:c.*757-1586C>A	ENSP00000504343.1:n.*757-1586C>A
ENST00000679098.1:c.*8+547C>A	ENSP00000504303.1:n.*8+547C>A
XR_001737316.2:n.1478-1586C>A
XR_001737317.2:n.1478-1586C>A