Canonical Allele Identifier: CA732340273

Gene: PSEN2

Linked Data

• dbSNP Id: rs1407391286
• gnomAD v3: 1-226870463-ACG-A
• gnomAD v4: 1-226870463-ACG-A
• MyVariant Identifiers: chr1:g.227058165_227058166del (hg19) ; chr1:g.226870464_226870465del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226870466_226870467del , CM000663.2:g.226870466_226870467del	GRCh38
NC_000001.10:g.227058167_227058168del , CM000663.1:g.227058167_227058168del	GRCh37
NC_000001.9:g.225124790_225124791del	NCBI36
NG_007381.1:g.4895_4896del
NG_007381.2:g.5283_5284del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.-389_-388del	ENSP00000355741.2:n.-389_-388del
ENST00000524196.6:c.-389_-388del	ENSP00000429036.2:n.-389_-388del
ENST00000676884.1:c.-389_-388del	ENSP00000503200.1:n.-389_-388del
ENST00000676888.1:c.-389_-388del	ENSP00000504483.1:n.-389_-388del
ENST00000524196.5:c.-389_-388del	ENSP00000429036.1:n.-389_-388del
XR_949226.1:n.55_56del