Canonical Allele Identifier: CA1225082425

Gene: PSEN2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226888738_226888741delinsAGAG , CM000663.2:g.226888738_226888741delinsAGAG	GRCh38
NC_000001.10:g.227076439_227076442delinsAGAG , CM000663.1:g.227076439_227076442delinsAGAG	GRCh37
NC_000001.9:g.225143062_225143065delinsAGAG	NCBI36
NG_007381.1:g.23167_23170delinsAGAG
NG_007381.2:g.23555_23558delinsAGAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000366779.6:c.567-91_567-88delinsAGAG	ENSP00000355741.2:n.567-91_567-88delinsAGAG
ENST00000366782.6:c.567-91_567-88delinsAGAG	ENSP00000355746.2:n.567-91_567-88delinsAGAG
ENST00000366783.8:c.567-91_567-88delinsAGAG MANE Select	ENSP00000355747.3:n.567-91_567-88delinsAGAG
ENST00000524196.6:c.567-91_567-88delinsAGAG	ENSP00000429036.2:n.567-91_567-88delinsAGAG
ENST00000626989.3:c.567-91_567-88delinsAGAG	ENSP00000486498.2:n.567-91_567-88delinsAGAG
ENST00000676467.1:c.*397-91_*397-88delinsAGAG	ENSP00000504294.1:n.*397-91_*397-88delinsAGAG
ENST00000676747.1:c.567-91_567-88delinsAGAG	ENSP00000503244.1:n.567-91_567-88delinsAGAG
ENST00000676840.1:c.567-91_567-88delinsAGAG	ENSP00000504318.1:n.567-91_567-88delinsAGAG
ENST00000676884.1:c.567-91_567-88delinsAGAG	ENSP00000503200.1:n.567-91_567-88delinsAGAG
ENST00000676888.1:c.567-91_567-88delinsAGAG	ENSP00000504483.1:n.567-91_567-88delinsAGAG
ENST00000676907.1:c.*146-91_*146-88delinsAGAG	ENSP00000504410.1:n.*146-91_*146-88delinsAGAG
ENST00000676945.1:c.567-91_567-88delinsAGAG	ENSP00000504433.1:n.567-91_567-88delinsAGAG
ENST00000677065.1:n.1128-91_1128-88delinsAGAG
ENST00000677414.1:c.567-91_567-88delinsAGAG	ENSP00000503116.1:n.567-91_567-88delinsAGAG
ENST00000677529.1:n.1005-91_1005-88delinsAGAG
ENST00000677596.1:c.*474-91_*474-88delinsAGAG	ENSP00000503618.1:n.*474-91_*474-88delinsAGAG
ENST00000677599.1:c.567-91_567-88delinsAGAG	ENSP00000503673.1:n.567-91_567-88delinsAGAG
ENST00000677748.1:n.1005-91_1005-88delinsAGAG
ENST00000677880.1:c.135-91_135-88delinsAGAG	ENSP00000503121.1:n.135-91_135-88delinsAGAG
ENST00000678021.1:c.*190-91_*190-88delinsAGAG	ENSP00000504674.1:n.*190-91_*190-88delinsAGAG
ENST00000678233.1:c.567-91_567-88delinsAGAG	ENSP00000504728.1:n.567-91_567-88delinsAGAG
ENST00000678320.1:c.567-91_567-88delinsAGAG	ENSP00000503680.1:n.567-91_567-88delinsAGAG
ENST00000678655.1:c.567-91_567-88delinsAGAG	ENSP00000504230.1:n.567-91_567-88delinsAGAG
ENST00000678706.1:c.567-91_567-88delinsAGAG	ENSP00000503659.1:n.567-91_567-88delinsAGAG
ENST00000678776.1:c.*397-91_*397-88delinsAGAG	ENSP00000504624.1:n.*397-91_*397-88delinsAGAG
ENST00000678784.1:c.567-91_567-88delinsAGAG	ENSP00000504652.1:n.567-91_567-88delinsAGAG
ENST00000678820.1:c.567-91_567-88delinsAGAG	ENSP00000504138.1:n.567-91_567-88delinsAGAG
ENST00000678835.1:c.567-91_567-88delinsAGAG	ENSP00000504343.1:n.567-91_567-88delinsAGAG
ENST00000679088.1:c.567-91_567-88delinsAGAG	ENSP00000504727.1:n.567-91_567-88delinsAGAG
ENST00000679098.1:c.567-91_567-88delinsAGAG	ENSP00000504303.1:n.567-91_567-88delinsAGAG
ENST00000366782.5:c.666-91_666-88delinsAGAG	ENSP00000355746.1:n.666-91_666-88delinsAGAG
ENST00000366783.7:c.567-91_567-88delinsAGAG	ENSP00000355747.3:n.567-91_567-88delinsAGAG
ENST00000422240.6:c.567-91_567-88delinsAGAG	ENSP00000403737.2:n.567-91_567-88delinsAGAG
ENST00000460775.5:c.48-91_48-88delinsAGAG	ENSP00000427912.1:n.48-91_48-88delinsAGAG
ENST00000472139.2:c.135-91_135-88delinsAGAG	ENSP00000427806.1:n.135-91_135-88delinsAGAG
ENST00000626989.2:c.666-91_666-88delinsAGAG	ENSP00000486498.1:n.666-91_666-88delinsAGAG
NM_000447.2:c.567-91_567-88delinsAGAG	NP_000438.2:n.567-91_567-88delinsAGAG
NM_012486.2:c.567-91_567-88delinsAGAG	NP_036618.2:n.567-91_567-88delinsAGAG
XM_005273199.2:c.567-91_567-88delinsAGAG	XP_005273256.1:n.567-91_567-88delinsAGAG
XM_011544236.1:c.135-91_135-88delinsAGAG	XP_011542538.1:n.135-91_135-88delinsAGAG
XR_949149.1:n.994-91_994-88delinsAGAG
XR_949150.1:n.994-91_994-88delinsAGAG
XM_005273199.4:c.567-91_567-88delinsAGAG	XP_005273256.1:n.567-91_567-88delinsAGAG
XM_017001835.1:c.567-91_567-88delinsAGAG	XP_016857324.1:n.567-91_567-88delinsAGAG
XM_017001836.1:c.567-91_567-88delinsAGAG	XP_016857325.1:n.567-91_567-88delinsAGAG
XR_001737316.2:n.972-91_972-88delinsAGAG
XR_001737317.2:n.972-91_972-88delinsAGAG
XR_001737318.2:n.972-91_972-88delinsAGAG
XR_001737319.1:n.1315-91_1315-88delinsAGAG
XR_001737320.1:n.1315-91_1315-88delinsAGAG
XR_001737321.1:n.807-91_807-88delinsAGAG
XR_949149.2:n.972-91_972-88delinsAGAG
XR_949150.3:n.972-91_972-88delinsAGAG
NM_000447.3:c.567-91_567-88delinsAGAG MANE Select	NP_000438.2:n.567-91_567-88delinsAGAG
NM_012486.3:c.567-91_567-88delinsAGAG	NP_036618.2:n.567-91_567-88delinsAGAG