Canonical Allele Identifier: CA1012965415

Gene: PSEN2

Linked Data

• dbSNP Id: rs1662135218
• gnomAD v3: 1-226896106-GTT-G
• gnomAD v4: 1-226896106-GTT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226896108_226896109del , CM000663.2:g.226896108_226896109del	GRCh38
NC_000001.10:g.227083809_227083810del , CM000663.1:g.227083809_227083810del	GRCh37
NC_000001.9:g.225150432_225150433del	NCBI36
NG_007381.1:g.30537_30538del
NG_012825.2:g.3573_3574del
NG_007381.2:g.30925_30926del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.*529_*530del	ENSP00000355741.2:n.*529_*530del
ENST00000524196.6:c.*529_*530del	ENSP00000429036.2:n.*529_*530del
ENST00000676747.1:c.1189-1612_1189-1611del	ENSP00000503244.1:n.1189-1612_1189-1611del
ENST00000676884.1:c.*529_*530del	ENSP00000503200.1:n.*529_*530del
ENST00000676945.1:c.1191+1983_1191+1984del	ENSP00000504433.1:n.1191+1983_1191+1984del
ENST00000677599.1:c.1191+1983_1191+1984del	ENSP00000503673.1:n.1191+1983_1191+1984del
ENST00000678233.1:c.*8+521_*8+522del	ENSP00000504728.1:n.*8+521_*8+522del
ENST00000678655.1:c.1093-1612_1093-1611del	ENSP00000504230.1:n.1093-1612_1093-1611del
ENST00000678784.1:c.1073-1612_1073-1611del	ENSP00000504652.1:n.1073-1612_1073-1611del
ENST00000678820.1:c.1090-1612_1090-1611del	ENSP00000504138.1:n.1090-1612_1090-1611del
ENST00000678835.1:c.*757-1612_*757-1611del	ENSP00000504343.1:n.*757-1612_*757-1611del
ENST00000679098.1:c.*8+521_*8+522del	ENSP00000504303.1:n.*8+521_*8+522del
XR_001737316.2:n.1478-1612_1478-1611del
XR_001737317.2:n.1478-1612_1478-1611del