Canonical Allele Identifier: CA2650786242

Gene: PSEN2

Linked Data

• gnomAD v4: 1-226888141-C-CACCTATA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226888142_226888148dup , CM000663.2:g.226888142_226888148dup	GRCh38
NC_000001.10:g.227075843_227075849dup , CM000663.1:g.227075843_227075849dup	GRCh37
NC_000001.9:g.225142466_225142472dup	NCBI36
NG_007381.1:g.22571_22577dup
NG_007381.2:g.22959_22965dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.550_556dup	ENSP00000355741.2:p.Ile186AsnfsTer?
ENST00000366782.6:c.550_556dup	ENSP00000355746.2:p.Ile186AsnfsTer?
ENST00000366783.8:c.550_556dup MANE Select	ENSP00000355747.3:p.Ile186AsnfsTer?
ENST00000524196.6:c.550_556dup	ENSP00000429036.2:p.Ile186AsnfsTer?
ENST00000626989.3:c.550_556dup	ENSP00000486498.2:p.Ile186AsnfsTer?
ENST00000676467.1:c.*380_*386dup	ENSP00000504294.1:n.*380_*386dup
ENST00000676747.1:c.550_556dup	ENSP00000503244.1:p.Ile186AsnfsTer?
ENST00000676840.1:c.550_556dup	ENSP00000504318.1:p.Ile186AsnfsTer?
ENST00000676884.1:c.550_556dup	ENSP00000503200.1:p.Ile186AsnfsTer?
ENST00000676888.1:c.550_556dup	ENSP00000504483.1:p.Ile186AsnfsTer?
ENST00000676907.1:c.*129_*135dup	ENSP00000504410.1:n.*129_*135dup
ENST00000676945.1:c.550_556dup	ENSP00000504433.1:p.Ile186AsnfsTer?
ENST00000677065.1:n.1111_1117dup
ENST00000677414.1:c.550_556dup	ENSP00000503116.1:p.Ile186AsnfsTer?
ENST00000677529.1:n.988_994dup
ENST00000677596.1:c.*457_*463dup	ENSP00000503618.1:n.*457_*463dup
ENST00000677599.1:c.550_556dup	ENSP00000503673.1:p.Ile186AsnfsTer?
ENST00000677748.1:n.988_994dup
ENST00000677880.1:c.118_124dup	ENSP00000503121.1:p.Ile42AsnfsTer?
ENST00000678021.1:c.*173_*179dup	ENSP00000504674.1:n.*173_*179dup
ENST00000678233.1:c.550_556dup	ENSP00000504728.1:p.Ile186AsnfsTer?
ENST00000678320.1:c.550_556dup	ENSP00000503680.1:p.Ile186AsnfsTer?
ENST00000678655.1:c.550_556dup	ENSP00000504230.1:p.Ile186AsnfsTer?
ENST00000678706.1:c.550_556dup	ENSP00000503659.1:p.Ile186AsnfsTer?
ENST00000678776.1:c.*380_*386dup	ENSP00000504624.1:n.*380_*386dup
ENST00000678784.1:c.550_556dup	ENSP00000504652.1:p.Ile186AsnfsTer?
ENST00000678820.1:c.550_556dup	ENSP00000504138.1:p.Ile186AsnfsTer?
ENST00000678835.1:c.550_556dup	ENSP00000504343.1:p.Ile186AsnfsTer?
ENST00000679088.1:c.550_556dup	ENSP00000504727.1:p.Ile186AsnfsTer?
ENST00000679098.1:c.550_556dup	ENSP00000504303.1:p.Ile186AsnfsTer?
ENST00000366782.5:c.649_655dup	ENSP00000355746.1:p.Ile219AsnfsTer?
ENST00000366783.7:c.550_556dup	ENSP00000355747.3:p.Ile186AsnfsTer?
ENST00000422240.6:c.550_556dup	ENSP00000403737.2:p.Ile186AsnfsTer?
ENST00000460775.5:c.31_37dup	ENSP00000427912.1:p.Ile13AsnfsTer?
ENST00000472139.2:c.118_124dup	ENSP00000427806.1:p.Ile42AsnfsTer?
ENST00000626989.2:c.649_655dup	ENSP00000486498.1:p.Ile219AsnfsTer?
NM_000447.2:c.550_556dup	NP_000438.2:p.Ile186AsnfsTer?
NM_012486.2:c.550_556dup	NP_036618.2:p.Ile186AsnfsTer?
XM_005273199.2:c.550_556dup	XP_005273256.1:p.Ile186AsnfsTer?
XM_011544236.1:c.118_124dup	XP_011542538.1:p.Ile42AsnfsTer?
XR_949149.1:n.977_983dup
XR_949150.1:n.977_983dup
XM_005273199.4:c.550_556dup	XP_005273256.1:p.Ile186AsnfsTer?
XM_017001835.1:c.550_556dup	XP_016857324.1:p.Ile186AsnfsTer?
XM_017001836.1:c.550_556dup	XP_016857325.1:p.Ile186AsnfsTer?
XR_001737316.2:n.955_961dup
XR_001737317.2:n.955_961dup
XR_001737318.2:n.955_961dup
XR_001737319.1:n.1298_1304dup
XR_001737320.1:n.1298_1304dup
XR_001737321.1:n.790_796dup
XR_949149.2:n.955_961dup
XR_949150.3:n.955_961dup
NM_000447.3:c.550_556dup MANE Select	NP_000438.2:p.Ile186AsnfsTer?
NM_012486.3:c.550_556dup	NP_036618.2:p.Ile186AsnfsTer?