Canonical Allele Identifier: CA2747997013

Gene: PSEN2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226896127G>A , CM000663.2:g.226896127G>A	GRCh38
NC_000001.10:g.227083828G>A , CM000663.1:g.227083828G>A	GRCh37
NC_000001.9:g.225150451G>A	NCBI36
NG_007381.1:g.30556G>A
NG_012825.2:g.3592G>A
NG_007381.2:g.30944G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.*548G>A	ENSP00000355741.2:n.*548G>A
ENST00000524196.6:c.*548G>A	ENSP00000429036.2:n.*548G>A
ENST00000676747.1:c.1189-1593G>A	ENSP00000503244.1:n.1189-1593G>A
ENST00000676884.1:c.*548G>A	ENSP00000503200.1:n.*548G>A
ENST00000676945.1:c.1191+2002G>A	ENSP00000504433.1:n.1191+2002G>A
ENST00000677599.1:c.1191+2002G>A	ENSP00000503673.1:n.1191+2002G>A
ENST00000678233.1:c.*8+540G>A	ENSP00000504728.1:n.*8+540G>A
ENST00000678655.1:c.1093-1593G>A	ENSP00000504230.1:n.1093-1593G>A
ENST00000678784.1:c.1073-1593G>A	ENSP00000504652.1:n.1073-1593G>A
ENST00000678820.1:c.1090-1593G>A	ENSP00000504138.1:n.1090-1593G>A
ENST00000678835.1:c.*757-1593G>A	ENSP00000504343.1:n.*757-1593G>A
ENST00000679098.1:c.*8+540G>A	ENSP00000504303.1:n.*8+540G>A
XR_001737316.2:n.1478-1593G>A
XR_001737317.2:n.1478-1593G>A