Canonical Allele Identifier: CA1012981685

Gene: PSEN2

Linked Data

• dbSNP Id: rs1177896380
• gnomAD v3: 1-226870493-C-G
• gnomAD v4: 1-226870493-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226870493C>G , CM000663.2:g.226870493C>G	GRCh38
NC_000001.10:g.227058194C>G , CM000663.1:g.227058194C>G	GRCh37
NC_000001.9:g.225124817C>G	NCBI36
NG_007381.1:g.4922C>G
NG_007381.2:g.5310C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.-362C>G	ENSP00000355741.2:n.-362C>G
ENST00000524196.6:c.-362C>G	ENSP00000429036.2:n.-362C>G
ENST00000676884.1:c.-362C>G	ENSP00000503200.1:n.-362C>G
ENST00000676888.1:c.-362C>G	ENSP00000504483.1:n.-362C>G
ENST00000524196.5:c.-362C>G	ENSP00000429036.1:n.-362C>G
XR_949226.1:n.27G>C