Canonical Allele Identifier: CA2650784296

Gene: PSEN2

Linked Data

• gnomAD v4: 1-226871260-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226871260A>G , CM000663.2:g.226871260A>G	GRCh38
NC_000001.10:g.227058961A>G , CM000663.1:g.227058961A>G	GRCh37
NC_000001.9:g.225125584A>G	NCBI36
NG_007381.1:g.5689A>G
NG_007381.2:g.6077A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.-349-2A>G	ENSP00000355741.2:n.-349-2A>G
ENST00000366783.8:c.-349-2A>G MANE Select	ENSP00000355747.3:n.-349-2A>G
ENST00000524196.6:c.-349-2A>G	ENSP00000429036.2:n.-349-2A>G
ENST00000676467.1:c.-351A>G	ENSP00000504294.1:n.-351A>G
ENST00000676747.1:c.-207+611A>G	ENSP00000503244.1:n.-207+611A>G
ENST00000676840.1:c.-349-2A>G	ENSP00000504318.1:n.-349-2A>G
ENST00000676884.1:c.-349-2A>G	ENSP00000503200.1:n.-349-2A>G
ENST00000676888.1:c.-349-2A>G	ENSP00000504483.1:n.-349-2A>G
ENST00000676907.1:c.-349-2A>G	ENSP00000504410.1:n.-349-2A>G
ENST00000676945.1:c.-349-2A>G	ENSP00000504433.1:n.-349-2A>G
ENST00000677414.1:c.-207+611A>G	ENSP00000503116.1:n.-207+611A>G
ENST00000677529.1:n.90-2A>G
ENST00000677596.1:c.-349-2A>G	ENSP00000503618.1:n.-349-2A>G
ENST00000677599.1:c.-349-2A>G	ENSP00000503673.1:n.-349-2A>G
ENST00000677748.1:n.90-2A>G
ENST00000677880.1:c.-482-2A>G	ENSP00000503121.1:n.-482-2A>G
ENST00000678021.1:c.-349-2A>G	ENSP00000504674.1:n.-349-2A>G
ENST00000678233.1:c.-349-2A>G	ENSP00000504728.1:n.-349-2A>G
ENST00000678320.1:c.-349-2A>G	ENSP00000503680.1:n.-349-2A>G
ENST00000678655.1:c.-349-2A>G	ENSP00000504230.1:n.-349-2A>G
ENST00000678706.1:c.-349-2A>G	ENSP00000503659.1:n.-349-2A>G
ENST00000678776.1:c.-351A>G	ENSP00000504624.1:n.-351A>G
ENST00000678784.1:c.-349-2A>G	ENSP00000504652.1:n.-349-2A>G
ENST00000678820.1:c.-349-2A>G	ENSP00000504138.1:n.-349-2A>G
ENST00000678835.1:c.-349-2A>G	ENSP00000504343.1:n.-349-2A>G
ENST00000679088.1:c.-1797-2A>G	ENSP00000504727.1:n.-1797-2A>G
ENST00000679098.1:c.-349-2A>G	ENSP00000504303.1:n.-349-2A>G
ENST00000366783.7:c.-349-2A>G	ENSP00000355747.3:n.-349-2A>G
ENST00000422240.6:c.-349-2A>G	ENSP00000403737.2:n.-349-2A>G
ENST00000495488.5:c.-207+611A>G	ENSP00000429682.1:n.-207+611A>G
ENST00000521431.1:n.398A>G
ENST00000524196.5:c.-349-2A>G	ENSP00000429036.1:n.-349-2A>G
NM_000447.2:c.-349-2A>G	NP_000438.2:n.-349-2A>G
NM_012486.2:c.-349-2A>G	NP_036618.2:n.-349-2A>G
XM_005273199.2:c.-207+611A>G	XP_005273256.1:n.-207+611A>G
XR_949149.1:n.79-2A>G
XR_949150.1:n.79-2A>G
XM_005273199.4:c.-207+611A>G	XP_005273256.1:n.-207+611A>G
XM_017001835.1:c.-351A>G	XP_016857324.1:n.-351A>G
XM_017001836.1:c.-207+611A>G	XP_016857325.1:n.-207+611A>G
XR_001737316.2:n.57-2A>G
XR_001737317.2:n.57-2A>G
XR_001737318.2:n.57-2A>G
XR_001737319.1:n.398A>G
XR_001737320.1:n.398A>G
XR_001737321.1:n.34+611A>G
XR_949149.2:n.57-2A>G
XR_949150.3:n.57-2A>G
NM_000447.3:c.-349-2A>G MANE Select	NP_000438.2:n.-349-2A>G
NM_012486.3:c.-349-2A>G	NP_036618.2:n.-349-2A>G