Canonical Allele Identifier: CA2747996566

Gene: PSEN2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226870612A>C , CM000663.2:g.226870612A>C	GRCh38
NC_000001.10:g.227058313A>C , CM000663.1:g.227058313A>C	GRCh37
NC_000001.9:g.225124936A>C	NCBI36
NG_007381.1:g.5041A>C
NG_007381.2:g.5429A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.-350+107A>C	ENSP00000355741.2:n.-350+107A>C
ENST00000524196.6:c.-350+107A>C	ENSP00000429036.2:n.-350+107A>C
ENST00000676747.1:c.-244A>C	ENSP00000503244.1:n.-244A>C
ENST00000676840.1:c.-387A>C	ENSP00000504318.1:n.-387A>C
ENST00000676884.1:c.-350+107A>C	ENSP00000503200.1:n.-350+107A>C
ENST00000676888.1:c.-350+107A>C	ENSP00000504483.1:n.-350+107A>C
ENST00000676907.1:c.-387A>C	ENSP00000504410.1:n.-387A>C
ENST00000676945.1:c.-387A>C	ENSP00000504433.1:n.-387A>C
ENST00000677414.1:c.-244A>C	ENSP00000503116.1:n.-244A>C
ENST00000677529.1:n.52A>C
ENST00000677599.1:c.-387A>C	ENSP00000503673.1:n.-387A>C
ENST00000677748.1:n.52A>C
ENST00000678021.1:c.-387A>C	ENSP00000504674.1:n.-387A>C
ENST00000678233.1:c.-387A>C	ENSP00000504728.1:n.-387A>C
ENST00000678320.1:c.-387A>C	ENSP00000503680.1:n.-387A>C
ENST00000678655.1:c.-387A>C	ENSP00000504230.1:n.-387A>C
ENST00000678706.1:c.-387A>C	ENSP00000503659.1:n.-387A>C
ENST00000678784.1:c.-387A>C	ENSP00000504652.1:n.-387A>C
ENST00000678820.1:c.-387A>C	ENSP00000504138.1:n.-387A>C
ENST00000678835.1:c.-387A>C	ENSP00000504343.1:n.-387A>C
ENST00000679088.1:c.-1835A>C	ENSP00000504727.1:n.-1835A>C
ENST00000679098.1:c.-387A>C	ENSP00000504303.1:n.-387A>C
ENST00000366783.7:c.-387A>C	ENSP00000355747.3:n.-387A>C
ENST00000524196.5:c.-350+107A>C	ENSP00000429036.1:n.-350+107A>C
NM_000447.2:c.-387A>C	NP_000438.2:n.-387A>C
NM_012486.2:c.-387A>C	NP_036618.2:n.-387A>C
XR_949149.1:n.41A>C
XR_949150.1:n.41A>C
XR_001737316.2:n.19A>C
XR_001737317.2:n.19A>C
XR_001737318.2:n.19A>C
XR_949149.2:n.19A>C
XR_949150.3:n.19A>C