Canonical Allele Identifier: CA1225082395

Gene: PSEN2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226888671_226888672delinsGT , CM000663.2:g.226888671_226888672delinsGT	GRCh38
NC_000001.10:g.227076372_227076373delinsGT , CM000663.1:g.227076372_227076373delinsGT	GRCh37
NC_000001.9:g.225142995_225142996delinsGT	NCBI36
NG_007381.1:g.23100_23101delinsGT
NG_007381.2:g.23488_23489delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.567-158_567-157delinsGT	ENSP00000355741.2:n.567-158_567-157delinsGT
ENST00000366782.6:c.567-158_567-157delinsGT	ENSP00000355746.2:n.567-158_567-157delinsGT
ENST00000366783.8:c.567-158_567-157delinsGT MANE Select	ENSP00000355747.3:n.567-158_567-157delinsGT
ENST00000524196.6:c.567-158_567-157delinsGT	ENSP00000429036.2:n.567-158_567-157delinsGT
ENST00000626989.3:c.567-158_567-157delinsGT	ENSP00000486498.2:n.567-158_567-157delinsGT
ENST00000676467.1:c.*397-158_*397-157delinsGT	ENSP00000504294.1:n.*397-158_*397-157delinsGT
ENST00000676747.1:c.567-158_567-157delinsGT	ENSP00000503244.1:n.567-158_567-157delinsGT
ENST00000676840.1:c.567-158_567-157delinsGT	ENSP00000504318.1:n.567-158_567-157delinsGT
ENST00000676884.1:c.567-158_567-157delinsGT	ENSP00000503200.1:n.567-158_567-157delinsGT
ENST00000676888.1:c.567-158_567-157delinsGT	ENSP00000504483.1:n.567-158_567-157delinsGT
ENST00000676907.1:c.*146-158_*146-157delinsGT	ENSP00000504410.1:n.*146-158_*146-157delinsGT
ENST00000676945.1:c.567-158_567-157delinsGT	ENSP00000504433.1:n.567-158_567-157delinsGT
ENST00000677065.1:n.1128-158_1128-157delinsGT
ENST00000677414.1:c.567-158_567-157delinsGT	ENSP00000503116.1:n.567-158_567-157delinsGT
ENST00000677529.1:n.1005-158_1005-157delinsGT
ENST00000677596.1:c.*474-158_*474-157delinsGT	ENSP00000503618.1:n.*474-158_*474-157delinsGT
ENST00000677599.1:c.567-158_567-157delinsGT	ENSP00000503673.1:n.567-158_567-157delinsGT
ENST00000677748.1:n.1005-158_1005-157delinsGT
ENST00000677880.1:c.135-158_135-157delinsGT	ENSP00000503121.1:n.135-158_135-157delinsGT
ENST00000678021.1:c.*190-158_*190-157delinsGT	ENSP00000504674.1:n.*190-158_*190-157delinsGT
ENST00000678233.1:c.567-158_567-157delinsGT	ENSP00000504728.1:n.567-158_567-157delinsGT
ENST00000678320.1:c.567-158_567-157delinsGT	ENSP00000503680.1:n.567-158_567-157delinsGT
ENST00000678655.1:c.567-158_567-157delinsGT	ENSP00000504230.1:n.567-158_567-157delinsGT
ENST00000678706.1:c.567-158_567-157delinsGT	ENSP00000503659.1:n.567-158_567-157delinsGT
ENST00000678776.1:c.*397-158_*397-157delinsGT	ENSP00000504624.1:n.*397-158_*397-157delinsGT
ENST00000678784.1:c.567-158_567-157delinsGT	ENSP00000504652.1:n.567-158_567-157delinsGT
ENST00000678820.1:c.567-158_567-157delinsGT	ENSP00000504138.1:n.567-158_567-157delinsGT
ENST00000678835.1:c.567-158_567-157delinsGT	ENSP00000504343.1:n.567-158_567-157delinsGT
ENST00000679088.1:c.567-158_567-157delinsGT	ENSP00000504727.1:n.567-158_567-157delinsGT
ENST00000679098.1:c.567-158_567-157delinsGT	ENSP00000504303.1:n.567-158_567-157delinsGT
ENST00000366782.5:c.666-158_666-157delinsGT	ENSP00000355746.1:n.666-158_666-157delinsGT
ENST00000366783.7:c.567-158_567-157delinsGT	ENSP00000355747.3:n.567-158_567-157delinsGT
ENST00000422240.6:c.567-158_567-157delinsGT	ENSP00000403737.2:n.567-158_567-157delinsGT
ENST00000460775.5:c.48-158_48-157delinsGT	ENSP00000427912.1:n.48-158_48-157delinsGT
ENST00000472139.2:c.135-158_135-157delinsGT	ENSP00000427806.1:n.135-158_135-157delinsGT
ENST00000626989.2:c.666-158_666-157delinsGT	ENSP00000486498.1:n.666-158_666-157delinsGT
NM_000447.2:c.567-158_567-157delinsGT	NP_000438.2:n.567-158_567-157delinsGT
NM_012486.2:c.567-158_567-157delinsGT	NP_036618.2:n.567-158_567-157delinsGT
XM_005273199.2:c.567-158_567-157delinsGT	XP_005273256.1:n.567-158_567-157delinsGT
XM_011544236.1:c.135-158_135-157delinsGT	XP_011542538.1:n.135-158_135-157delinsGT
XR_949149.1:n.994-158_994-157delinsGT
XR_949150.1:n.994-158_994-157delinsGT
XM_005273199.4:c.567-158_567-157delinsGT	XP_005273256.1:n.567-158_567-157delinsGT
XM_017001835.1:c.567-158_567-157delinsGT	XP_016857324.1:n.567-158_567-157delinsGT
XM_017001836.1:c.567-158_567-157delinsGT	XP_016857325.1:n.567-158_567-157delinsGT
XR_001737316.2:n.972-158_972-157delinsGT
XR_001737317.2:n.972-158_972-157delinsGT
XR_001737318.2:n.972-158_972-157delinsGT
XR_001737319.1:n.1315-158_1315-157delinsGT
XR_001737320.1:n.1315-158_1315-157delinsGT
XR_001737321.1:n.807-158_807-157delinsGT
XR_949149.2:n.972-158_972-157delinsGT
XR_949150.3:n.972-158_972-157delinsGT
NM_000447.3:c.567-158_567-157delinsGT MANE Select	NP_000438.2:n.567-158_567-157delinsGT
NM_012486.3:c.567-158_567-157delinsGT	NP_036618.2:n.567-158_567-157delinsGT