Canonical Allele Identifier: CA2747996555

Gene: PSEN2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226870522C>A , CM000663.2:g.226870522C>A	GRCh38
NC_000001.10:g.227058223C>A , CM000663.1:g.227058223C>A	GRCh37
NC_000001.9:g.225124846C>A	NCBI36
NG_007381.1:g.4951C>A
NG_007381.2:g.5339C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.-350+17C>A	ENSP00000355741.2:n.-350+17C>A
ENST00000524196.6:c.-350+17C>A	ENSP00000429036.2:n.-350+17C>A
ENST00000676884.1:c.-350+17C>A	ENSP00000503200.1:n.-350+17C>A
ENST00000676888.1:c.-350+17C>A	ENSP00000504483.1:n.-350+17C>A
ENST00000678835.1:c.-477C>A	ENSP00000504343.1:n.-477C>A
ENST00000524196.5:c.-350+17C>A	ENSP00000429036.1:n.-350+17C>A