Canonical Allele Identifier: CA1012965423

Gene: PSEN2

Linked Data

• dbSNP Id: rs1662135780
• gnomAD v3: 1-226896123-T-C
• gnomAD v4: 1-226896123-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226896123T>C , CM000663.2:g.226896123T>C	GRCh38
NC_000001.10:g.227083824T>C , CM000663.1:g.227083824T>C	GRCh37
NC_000001.9:g.225150447T>C	NCBI36
NG_007381.1:g.30552T>C
NG_012825.2:g.3588T>C
NG_007381.2:g.30940T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.*544T>C	ENSP00000355741.2:n.*544T>C
ENST00000524196.6:c.*544T>C	ENSP00000429036.2:n.*544T>C
ENST00000676747.1:c.1189-1597T>C	ENSP00000503244.1:n.1189-1597T>C
ENST00000676884.1:c.*544T>C	ENSP00000503200.1:n.*544T>C
ENST00000676945.1:c.1191+1998T>C	ENSP00000504433.1:n.1191+1998T>C
ENST00000677599.1:c.1191+1998T>C	ENSP00000503673.1:n.1191+1998T>C
ENST00000678233.1:c.*8+536T>C	ENSP00000504728.1:n.*8+536T>C
ENST00000678655.1:c.1093-1597T>C	ENSP00000504230.1:n.1093-1597T>C
ENST00000678784.1:c.1073-1597T>C	ENSP00000504652.1:n.1073-1597T>C
ENST00000678820.1:c.1090-1597T>C	ENSP00000504138.1:n.1090-1597T>C
ENST00000678835.1:c.*757-1597T>C	ENSP00000504343.1:n.*757-1597T>C
ENST00000679098.1:c.*8+536T>C	ENSP00000504303.1:n.*8+536T>C
XR_001737316.2:n.1478-1597T>C
XR_001737317.2:n.1478-1597T>C