Canonical Allele Identifier: CA732355419

Gene: PSEN2

Linked Data

• dbSNP Id: rs1472505196
• MyVariant Identifiers: chr1:g.227082135_227082138del (hg19) ; chr1:g.226894434_226894437del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226894434_226894437del , CM000663.2:g.226894434_226894437del	GRCh38
NC_000001.10:g.227082135_227082138del , CM000663.1:g.227082135_227082138del	GRCh37
NC_000001.9:g.225148758_225148761del	NCBI36
NG_007381.1:g.28863_28866del
NG_012825.2:g.1899_1902del
NG_007381.2:g.29251_29254del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.1191+309_1191+312del	ENSP00000355741.2:n.1191+309_1191+312del
ENST00000366782.6:c.1191+309_1191+312del	ENSP00000355746.2:n.1191+309_1191+312del
ENST00000366783.8:c.1191+309_1191+312del MANE Select	ENSP00000355747.3:n.1191+309_1191+312del
ENST00000471728.2:n.1829+309_1829+312del
ENST00000524196.6:c.1191+309_1191+312del	ENSP00000429036.2:n.1191+309_1191+312del
ENST00000626989.3:c.1191+309_1191+312del	ENSP00000486498.2:n.1191+309_1191+312del
ENST00000676467.1:c.*1018+309_*1018+312del	ENSP00000504294.1:n.*1018+309_*1018+312del
ENST00000676747.1:c.1188+309_1188+312del	ENSP00000503244.1:n.1188+309_1188+312del
ENST00000676884.1:c.1191+309_1191+312del	ENSP00000503200.1:n.1191+309_1191+312del
ENST00000676888.1:c.*532+309_*532+312del	ENSP00000504483.1:n.*532+309_*532+312del
ENST00000676907.1:c.*770+309_*770+312del	ENSP00000504410.1:n.*770+309_*770+312del
ENST00000676945.1:c.1191+309_1191+312del	ENSP00000504433.1:n.1191+309_1191+312del
ENST00000677065.1:n.1752+309_1752+312del
ENST00000677414.1:c.1191+309_1191+312del	ENSP00000503116.1:n.1191+309_1191+312del
ENST00000677529.1:n.2921+309_2921+312del
ENST00000677596.1:c.*1413+309_*1413+312del	ENSP00000503618.1:n.*1413+309_*1413+312del
ENST00000677599.1:c.1191+309_1191+312del	ENSP00000503673.1:n.1191+309_1191+312del
ENST00000677748.1:n.3446+309_3446+312del
ENST00000677880.1:c.756+309_756+312del	ENSP00000503121.1:n.756+309_756+312del
ENST00000678021.1:c.*814+309_*814+312del	ENSP00000504674.1:n.*814+309_*814+312del
ENST00000678233.1:c.1191+309_1191+312del	ENSP00000504728.1:n.1191+309_1191+312del
ENST00000678320.1:c.1092+309_1092+312del	ENSP00000503680.1:n.1092+309_1092+312del
ENST00000678655.1:c.1092+309_1092+312del	ENSP00000504230.1:n.1092+309_1092+312del
ENST00000678706.1:c.*568+309_*568+312del	ENSP00000503659.1:n.*568+309_*568+312del
ENST00000678776.1:c.*1328+309_*1328+312del	ENSP00000504624.1:n.*1328+309_*1328+312del
ENST00000678784.1:c.1072+2590_1072+2593del	ENSP00000504652.1:n.1072+2590_1072+2593del
ENST00000678820.1:c.1089+309_1089+312del	ENSP00000504138.1:n.1089+309_1089+312del
ENST00000678835.1:c.*756+2590_*756+2593del	ENSP00000504343.1:n.*756+2590_*756+2593del
ENST00000679088.1:c.1191+309_1191+312del	ENSP00000504727.1:n.1191+309_1191+312del
ENST00000679098.1:c.1191+309_1191+312del	ENSP00000504303.1:n.1191+309_1191+312del
ENST00000366782.5:c.1290+309_1290+312del	ENSP00000355746.1:n.1290+309_1290+312del
ENST00000366783.7:c.1191+309_1191+312del	ENSP00000355747.3:n.1191+309_1191+312del
ENST00000422240.6:c.1188+309_1188+312del	ENSP00000403737.2:n.1188+309_1188+312del
ENST00000471728.1:n.449+309_449+312del
ENST00000472139.2:c.759+309_759+312del	ENSP00000427806.1:n.759+309_759+312del
ENST00000626989.2:c.1290+309_1290+312del	ENSP00000486498.1:n.1290+309_1290+312del
NM_000447.2:c.1191+309_1191+312del	NP_000438.2:n.1191+309_1191+312del
NM_012486.2:c.1188+309_1188+312del	NP_036618.2:n.1188+309_1188+312del
XM_005273199.2:c.1191+309_1191+312del	XP_005273256.1:n.1191+309_1191+312del
XM_011544236.1:c.759+309_759+312del	XP_011542538.1:n.759+309_759+312del
XR_949149.1:n.1925+309_1925+312del
XM_005273199.4:c.1191+309_1191+312del	XP_005273256.1:n.1191+309_1191+312del
XM_017001835.1:c.1191+309_1191+312del	XP_016857324.1:n.1191+309_1191+312del
XM_017001836.1:c.1188+309_1188+312del	XP_016857325.1:n.1188+309_1188+312del
XR_001737316.2:n.1477+2590_1477+2593del
XR_001737317.2:n.1477+2590_1477+2593del
XR_001737318.2:n.1906+309_1906+312del
XR_001737319.1:n.2249+309_2249+312del
XR_001737320.1:n.2246+309_2246+312del
XR_001737321.1:n.1741+309_1741+312del
XR_949149.2:n.1903+309_1903+312del
XR_949150.3:n.2122+309_2122+312del
NM_000447.3:c.1191+309_1191+312del MANE Select	NP_000438.2:n.1191+309_1191+312del
NM_012486.3:c.1188+309_1188+312del	NP_036618.2:n.1188+309_1188+312del