Canonical Allele Identifier: CA1225084794

Gene: PSEN2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226894358_226894376delinsAGTGTACCGGCCCCAGCGT , CM000663.2:g.226894358_226894376delinsAGTGTACCGGCCCCAGCGT	GRCh38
NC_000001.10:g.227082059_227082077delinsAGTGTACCGGCCCCAGCGT , CM000663.1:g.227082059_227082077delinsAGTGTACCGGCCCCAGCGT	GRCh37
NC_000001.9:g.225148682_225148700delinsAGTGTACCGGCCCCAGCGT	NCBI36
NG_007381.1:g.28787_28805delinsAGTGTACCGGCCCCAGCGT
NG_012825.2:g.1823_1841delinsAGTGTACCGGCCCCAGCGT
NG_007381.2:g.29175_29193delinsAGTGTACCGGCCCCAGCGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.1191+233_1191+251delinsAGTGTACCGGCCCCAGCGT	ENSP00000355741.2:n.1191+233_1191+251delinsAGTGTACCGGCCCCAGCG...
ENST00000366782.6:c.1191+233_1191+251delinsAGTGTACCGGCCCCAGCGT	ENSP00000355746.2:n.1191+233_1191+251delinsAGTGTACCGGCCCCAGCG...
ENST00000366783.8:c.1191+233_1191+251delinsAGTGTACCGGCCCCAGCGT MANE Select	ENSP00000355747.3:n.1191+233_1191+251delinsAGTGTACCGGCCCCAGCG...
ENST00000471728.2:n.1829+233_1829+251delinsAGTGTACCGGCCCCAGCGT
ENST00000524196.6:c.1191+233_1191+251delinsAGTGTACCGGCCCCAGCGT	ENSP00000429036.2:n.1191+233_1191+251delinsAGTGTACCGGCCCCAGCG...
ENST00000626989.3:c.1191+233_1191+251delinsAGTGTACCGGCCCCAGCGT	ENSP00000486498.2:n.1191+233_1191+251delinsAGTGTACCGGCCCCAGCG...
ENST00000676467.1:c.*1018+233_*1018+251delinsAGTGTACCGGCCCCAGCGT	ENSP00000504294.1:n.*1018+233_*1018+251delinsAGTGTACCGGCCCCAG...
ENST00000676747.1:c.1188+233_1188+251delinsAGTGTACCGGCCCCAGCGT	ENSP00000503244.1:n.1188+233_1188+251delinsAGTGTACCGGCCCCAGCG...
ENST00000676884.1:c.1191+233_1191+251delinsAGTGTACCGGCCCCAGCGT	ENSP00000503200.1:n.1191+233_1191+251delinsAGTGTACCGGCCCCAGCG...
ENST00000676888.1:c.*532+233_*532+251delinsAGTGTACCGGCCCCAGCGT	ENSP00000504483.1:n.*532+233_*532+251delinsAGTGTACCGGCCCCAGCG...
ENST00000676907.1:c.*770+233_*770+251delinsAGTGTACCGGCCCCAGCGT	ENSP00000504410.1:n.*770+233_*770+251delinsAGTGTACCGGCCCCAGCG...
ENST00000676945.1:c.1191+233_1191+251delinsAGTGTACCGGCCCCAGCGT	ENSP00000504433.1:n.1191+233_1191+251delinsAGTGTACCGGCCCCAGCG...
ENST00000677065.1:n.1752+233_1752+251delinsAGTGTACCGGCCCCAGCGT
ENST00000677414.1:c.1191+233_1191+251delinsAGTGTACCGGCCCCAGCGT	ENSP00000503116.1:n.1191+233_1191+251delinsAGTGTACCGGCCCCAGCG...
ENST00000677529.1:n.2921+233_2921+251delinsAGTGTACCGGCCCCAGCGT
ENST00000677596.1:c.*1413+233_*1413+251delinsAGTGTACCGGCCCCAGCGT	ENSP00000503618.1:n.*1413+233_*1413+251delinsAGTGTACCGGCCCCAG...
ENST00000677599.1:c.1191+233_1191+251delinsAGTGTACCGGCCCCAGCGT	ENSP00000503673.1:n.1191+233_1191+251delinsAGTGTACCGGCCCCAGCG...
ENST00000677748.1:n.3446+233_3446+251delinsAGTGTACCGGCCCCAGCGT
ENST00000677880.1:c.756+233_756+251delinsAGTGTACCGGCCCCAGCGT	ENSP00000503121.1:n.756+233_756+251delinsAGTGTACCGGCCCCAGCGT
ENST00000678021.1:c.*814+233_*814+251delinsAGTGTACCGGCCCCAGCGT	ENSP00000504674.1:n.*814+233_*814+251delinsAGTGTACCGGCCCCAGCG...
ENST00000678233.1:c.1191+233_1191+251delinsAGTGTACCGGCCCCAGCGT	ENSP00000504728.1:n.1191+233_1191+251delinsAGTGTACCGGCCCCAGCG...
ENST00000678320.1:c.1092+233_1092+251delinsAGTGTACCGGCCCCAGCGT	ENSP00000503680.1:n.1092+233_1092+251delinsAGTGTACCGGCCCCAGCG...
ENST00000678655.1:c.1092+233_1092+251delinsAGTGTACCGGCCCCAGCGT	ENSP00000504230.1:n.1092+233_1092+251delinsAGTGTACCGGCCCCAGCG...
ENST00000678706.1:c.*568+233_*568+251delinsAGTGTACCGGCCCCAGCGT	ENSP00000503659.1:n.*568+233_*568+251delinsAGTGTACCGGCCCCAGCG...
ENST00000678776.1:c.*1328+233_*1328+251delinsAGTGTACCGGCCCCAGCGT	ENSP00000504624.1:n.*1328+233_*1328+251delinsAGTGTACCGGCCCCAG...
ENST00000678784.1:c.1072+2514_1072+2532delinsAGTGTACCGGCCCCAGCGT	ENSP00000504652.1:n.1072+2514_1072+2532delinsAGTGTACCGGCCCCAG...
ENST00000678820.1:c.1089+233_1089+251delinsAGTGTACCGGCCCCAGCGT	ENSP00000504138.1:n.1089+233_1089+251delinsAGTGTACCGGCCCCAGCG...
ENST00000678835.1:c.*756+2514_*756+2532delinsAGTGTACCGGCCCCAGCGT	ENSP00000504343.1:n.*756+2514_*756+2532delinsAGTGTACCGGCCCCAG...
ENST00000679088.1:c.1191+233_1191+251delinsAGTGTACCGGCCCCAGCGT	ENSP00000504727.1:n.1191+233_1191+251delinsAGTGTACCGGCCCCAGCG...
ENST00000679098.1:c.1191+233_1191+251delinsAGTGTACCGGCCCCAGCGT	ENSP00000504303.1:n.1191+233_1191+251delinsAGTGTACCGGCCCCAGCG...
ENST00000366782.5:c.1290+233_1290+251delinsAGTGTACCGGCCCCAGCGT	ENSP00000355746.1:n.1290+233_1290+251delinsAGTGTACCGGCCCCAGCG...
ENST00000366783.7:c.1191+233_1191+251delinsAGTGTACCGGCCCCAGCGT	ENSP00000355747.3:n.1191+233_1191+251delinsAGTGTACCGGCCCCAGCG...
ENST00000422240.6:c.1188+233_1188+251delinsAGTGTACCGGCCCCAGCGT	ENSP00000403737.2:n.1188+233_1188+251delinsAGTGTACCGGCCCCAGCG...
ENST00000471728.1:n.449+233_449+251delinsAGTGTACCGGCCCCAGCGT
ENST00000472139.2:c.759+233_759+251delinsAGTGTACCGGCCCCAGCGT	ENSP00000427806.1:n.759+233_759+251delinsAGTGTACCGGCCCCAGCGT
ENST00000626989.2:c.1290+233_1290+251delinsAGTGTACCGGCCCCAGCGT	ENSP00000486498.1:n.1290+233_1290+251delinsAGTGTACCGGCCCCAGCG...
NM_000447.2:c.1191+233_1191+251delinsAGTGTACCGGCCCCAGCGT	NP_000438.2:n.1191+233_1191+251delinsAGTGTACCGGCCCCAGCGT
NM_012486.2:c.1188+233_1188+251delinsAGTGTACCGGCCCCAGCGT	NP_036618.2:n.1188+233_1188+251delinsAGTGTACCGGCCCCAGCGT
XM_005273199.2:c.1191+233_1191+251delinsAGTGTACCGGCCCCAGCGT	XP_005273256.1:n.1191+233_1191+251delinsAGTGTACCGGCCCCAGCGT
XM_011544236.1:c.759+233_759+251delinsAGTGTACCGGCCCCAGCGT	XP_011542538.1:n.759+233_759+251delinsAGTGTACCGGCCCCAGCGT
XR_949149.1:n.1925+233_1925+251delinsAGTGTACCGGCCCCAGCGT
XM_005273199.4:c.1191+233_1191+251delinsAGTGTACCGGCCCCAGCGT	XP_005273256.1:n.1191+233_1191+251delinsAGTGTACCGGCCCCAGCGT
XM_017001835.1:c.1191+233_1191+251delinsAGTGTACCGGCCCCAGCGT	XP_016857324.1:n.1191+233_1191+251delinsAGTGTACCGGCCCCAGCGT
XM_017001836.1:c.1188+233_1188+251delinsAGTGTACCGGCCCCAGCGT	XP_016857325.1:n.1188+233_1188+251delinsAGTGTACCGGCCCCAGCGT
XR_001737316.2:n.1477+2514_1477+2532delinsAGTGTACCGGCCCCAGCGT
XR_001737317.2:n.1477+2514_1477+2532delinsAGTGTACCGGCCCCAGCGT
XR_001737318.2:n.1906+233_1906+251delinsAGTGTACCGGCCCCAGCGT
XR_001737319.1:n.2249+233_2249+251delinsAGTGTACCGGCCCCAGCGT
XR_001737320.1:n.2246+233_2246+251delinsAGTGTACCGGCCCCAGCGT
XR_001737321.1:n.1741+233_1741+251delinsAGTGTACCGGCCCCAGCGT
XR_949149.2:n.1903+233_1903+251delinsAGTGTACCGGCCCCAGCGT
XR_949150.3:n.2122+233_2122+251delinsAGTGTACCGGCCCCAGCGT
NM_000447.3:c.1191+233_1191+251delinsAGTGTACCGGCCCCAGCGT MANE Select	NP_000438.2:n.1191+233_1191+251delinsAGTGTACCGGCCCCAGCGT
NM_012486.3:c.1188+233_1188+251delinsAGTGTACCGGCCCCAGCGT	NP_036618.2:n.1188+233_1188+251delinsAGTGTACCGGCCCCAGCGT