Canonical Allele Identifier: CA732356804

Gene: PSEN2

Linked Data

• dbSNP Id: rs1408851305
• gnomAD v4: 1-226896140-G-A
• MyVariant Identifiers: chr1:g.227083841G>A (hg19) ; chr1:g.226896140G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226896140G>A , CM000663.2:g.226896140G>A	GRCh38
NC_000001.10:g.227083841G>A , CM000663.1:g.227083841G>A	GRCh37
NC_000001.9:g.225150464G>A	NCBI36
NG_007381.1:g.30569G>A
NG_012825.2:g.3605G>A
NG_007381.2:g.30957G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.*561G>A	ENSP00000355741.2:n.*561G>A
ENST00000524196.6:c.*561G>A	ENSP00000429036.2:n.*561G>A
ENST00000676747.1:c.1189-1580G>A	ENSP00000503244.1:n.1189-1580G>A
ENST00000676884.1:c.*561G>A	ENSP00000503200.1:n.*561G>A
ENST00000676945.1:c.1191+2015G>A	ENSP00000504433.1:n.1191+2015G>A
ENST00000677599.1:c.1191+2015G>A	ENSP00000503673.1:n.1191+2015G>A
ENST00000678233.1:c.*8+553G>A	ENSP00000504728.1:n.*8+553G>A
ENST00000678655.1:c.1093-1580G>A	ENSP00000504230.1:n.1093-1580G>A
ENST00000678784.1:c.1073-1580G>A	ENSP00000504652.1:n.1073-1580G>A
ENST00000678820.1:c.1090-1580G>A	ENSP00000504138.1:n.1090-1580G>A
ENST00000678835.1:c.*757-1580G>A	ENSP00000504343.1:n.*757-1580G>A
ENST00000679098.1:c.*8+553G>A	ENSP00000504303.1:n.*8+553G>A
XR_001737316.2:n.1478-1580G>A
XR_001737317.2:n.1478-1580G>A