Canonical Allele Identifier: CA1012981799

Gene: PSEN2

Linked Data

• dbSNP Id: rs1660201940
• gnomAD v3: 1-226870604-G-C
• gnomAD v4: 1-226870604-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226870604G>C , CM000663.2:g.226870604G>C	GRCh38
NC_000001.10:g.227058305G>C , CM000663.1:g.227058305G>C	GRCh37
NC_000001.9:g.225124928G>C	NCBI36
NG_007381.1:g.5033G>C
NG_007381.2:g.5421G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.-350+99G>C	ENSP00000355741.2:n.-350+99G>C
ENST00000524196.6:c.-350+99G>C	ENSP00000429036.2:n.-350+99G>C
ENST00000676747.1:c.-252G>C	ENSP00000503244.1:n.-252G>C
ENST00000676840.1:c.-395G>C	ENSP00000504318.1:n.-395G>C
ENST00000676884.1:c.-350+99G>C	ENSP00000503200.1:n.-350+99G>C
ENST00000676888.1:c.-350+99G>C	ENSP00000504483.1:n.-350+99G>C
ENST00000676907.1:c.-395G>C	ENSP00000504410.1:n.-395G>C
ENST00000676945.1:c.-395G>C	ENSP00000504433.1:n.-395G>C
ENST00000677414.1:c.-252G>C	ENSP00000503116.1:n.-252G>C
ENST00000677529.1:n.44G>C
ENST00000677599.1:c.-395G>C	ENSP00000503673.1:n.-395G>C
ENST00000677748.1:n.44G>C
ENST00000678233.1:c.-395G>C	ENSP00000504728.1:n.-395G>C
ENST00000678320.1:c.-395G>C	ENSP00000503680.1:n.-395G>C
ENST00000678655.1:c.-395G>C	ENSP00000504230.1:n.-395G>C
ENST00000678706.1:c.-395G>C	ENSP00000503659.1:n.-395G>C
ENST00000678784.1:c.-395G>C	ENSP00000504652.1:n.-395G>C
ENST00000678820.1:c.-395G>C	ENSP00000504138.1:n.-395G>C
ENST00000678835.1:c.-395G>C	ENSP00000504343.1:n.-395G>C
ENST00000679088.1:c.-1843G>C	ENSP00000504727.1:n.-1843G>C
ENST00000679098.1:c.-395G>C	ENSP00000504303.1:n.-395G>C
ENST00000366783.7:c.-395G>C	ENSP00000355747.3:n.-395G>C
ENST00000524196.5:c.-350+99G>C	ENSP00000429036.1:n.-350+99G>C
NM_000447.2:c.-395G>C	NP_000438.2:n.-395G>C
NM_012486.2:c.-395G>C	NP_036618.2:n.-395G>C
XR_949149.1:n.33G>C
XR_949150.1:n.33G>C
XR_001737316.2:n.11G>C
XR_001737317.2:n.11G>C
XR_001737318.2:n.11G>C
XR_949149.2:n.11G>C
XR_949150.3:n.11G>C