Canonical Allele Identifier: CA1012964773

Gene: PSEN2

Linked Data

• dbSNP Id: rs1661976552
• gnomAD v3: 1-226894358-AGTGTACCGGCCCCAGCGT-A
• gnomAD v4: 1-226894358-AGTGTACCGGCCCCAGCGT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226894360_226894377del , CM000663.2:g.226894360_226894377del	GRCh38
NC_000001.10:g.227082061_227082078del , CM000663.1:g.227082061_227082078del	GRCh37
NC_000001.9:g.225148684_225148701del	NCBI36
NG_007381.1:g.28789_28806del
NG_012825.2:g.1825_1842del
NG_007381.2:g.29177_29194del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.1191+235_1191+252del	ENSP00000355741.2:n.1191+235_1191+252del
ENST00000366782.6:c.1191+235_1191+252del	ENSP00000355746.2:n.1191+235_1191+252del
ENST00000366783.8:c.1191+235_1191+252del MANE Select	ENSP00000355747.3:n.1191+235_1191+252del
ENST00000471728.2:n.1829+235_1829+252del
ENST00000524196.6:c.1191+235_1191+252del	ENSP00000429036.2:n.1191+235_1191+252del
ENST00000626989.3:c.1191+235_1191+252del	ENSP00000486498.2:n.1191+235_1191+252del
ENST00000676467.1:c.*1018+235_*1018+252del	ENSP00000504294.1:n.*1018+235_*1018+252del
ENST00000676747.1:c.1188+235_1188+252del	ENSP00000503244.1:n.1188+235_1188+252del
ENST00000676884.1:c.1191+235_1191+252del	ENSP00000503200.1:n.1191+235_1191+252del
ENST00000676888.1:c.*532+235_*532+252del	ENSP00000504483.1:n.*532+235_*532+252del
ENST00000676907.1:c.*770+235_*770+252del	ENSP00000504410.1:n.*770+235_*770+252del
ENST00000676945.1:c.1191+235_1191+252del	ENSP00000504433.1:n.1191+235_1191+252del
ENST00000677065.1:n.1752+235_1752+252del
ENST00000677414.1:c.1191+235_1191+252del	ENSP00000503116.1:n.1191+235_1191+252del
ENST00000677529.1:n.2921+235_2921+252del
ENST00000677596.1:c.*1413+235_*1413+252del	ENSP00000503618.1:n.*1413+235_*1413+252del
ENST00000677599.1:c.1191+235_1191+252del	ENSP00000503673.1:n.1191+235_1191+252del
ENST00000677748.1:n.3446+235_3446+252del
ENST00000677880.1:c.756+235_756+252del	ENSP00000503121.1:n.756+235_756+252del
ENST00000678021.1:c.*814+235_*814+252del	ENSP00000504674.1:n.*814+235_*814+252del
ENST00000678233.1:c.1191+235_1191+252del	ENSP00000504728.1:n.1191+235_1191+252del
ENST00000678320.1:c.1092+235_1092+252del	ENSP00000503680.1:n.1092+235_1092+252del
ENST00000678655.1:c.1092+235_1092+252del	ENSP00000504230.1:n.1092+235_1092+252del
ENST00000678706.1:c.*568+235_*568+252del	ENSP00000503659.1:n.*568+235_*568+252del
ENST00000678776.1:c.*1328+235_*1328+252del	ENSP00000504624.1:n.*1328+235_*1328+252del
ENST00000678784.1:c.1072+2516_1072+2533del	ENSP00000504652.1:n.1072+2516_1072+2533del
ENST00000678820.1:c.1089+235_1089+252del	ENSP00000504138.1:n.1089+235_1089+252del
ENST00000678835.1:c.*756+2516_*756+2533del	ENSP00000504343.1:n.*756+2516_*756+2533del
ENST00000679088.1:c.1191+235_1191+252del	ENSP00000504727.1:n.1191+235_1191+252del
ENST00000679098.1:c.1191+235_1191+252del	ENSP00000504303.1:n.1191+235_1191+252del
ENST00000366782.5:c.1290+235_1290+252del	ENSP00000355746.1:n.1290+235_1290+252del
ENST00000366783.7:c.1191+235_1191+252del	ENSP00000355747.3:n.1191+235_1191+252del
ENST00000422240.6:c.1188+235_1188+252del	ENSP00000403737.2:n.1188+235_1188+252del
ENST00000471728.1:n.449+235_449+252del
ENST00000472139.2:c.759+235_759+252del	ENSP00000427806.1:n.759+235_759+252del
ENST00000626989.2:c.1290+235_1290+252del	ENSP00000486498.1:n.1290+235_1290+252del
NM_000447.2:c.1191+235_1191+252del	NP_000438.2:n.1191+235_1191+252del
NM_012486.2:c.1188+235_1188+252del	NP_036618.2:n.1188+235_1188+252del
XM_005273199.2:c.1191+235_1191+252del	XP_005273256.1:n.1191+235_1191+252del
XM_011544236.1:c.759+235_759+252del	XP_011542538.1:n.759+235_759+252del
XR_949149.1:n.1925+235_1925+252del
XM_005273199.4:c.1191+235_1191+252del	XP_005273256.1:n.1191+235_1191+252del
XM_017001835.1:c.1191+235_1191+252del	XP_016857324.1:n.1191+235_1191+252del
XM_017001836.1:c.1188+235_1188+252del	XP_016857325.1:n.1188+235_1188+252del
XR_001737316.2:n.1477+2516_1477+2533del
XR_001737317.2:n.1477+2516_1477+2533del
XR_001737318.2:n.1906+235_1906+252del
XR_001737319.1:n.2249+235_2249+252del
XR_001737320.1:n.2246+235_2246+252del
XR_001737321.1:n.1741+235_1741+252del
XR_949149.2:n.1903+235_1903+252del
XR_949150.3:n.2122+235_2122+252del
NM_000447.3:c.1191+235_1191+252del MANE Select	NP_000438.2:n.1191+235_1191+252del
NM_012486.3:c.1188+235_1188+252del	NP_036618.2:n.1188+235_1188+252del