Canonical Allele Identifier: CA529464618

Gene: PSEN2

Linked Data

• dbSNP Id: rs1192402716
• gnomAD v2: 1-227083548-G-GGTGGGGAGAAGA
• gnomAD v3: 1-226895847-G-GGTGGGGAGAAGA
• gnomAD v4: 1-226895847-G-GGTGGGGAGAAGA
• MyVariant Identifiers: chr1:g.227083548_227083549insGTGGGGAGAAGA (hg19) ; chr1:g.226895847_226895848insGTGGGGAGAAGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226895848_226895849insTGGGGAGAAGAG , CM000663.2:g.226895848_226895849insTGGGGAGAAGAG	GRCh38
NC_000001.10:g.227083549_227083550insTGGGGAGAAGAG , CM000663.1:g.227083549_227083550insTGGGGAGAAGAG	GRCh37
NC_000001.9:g.225150172_225150173insTGGGGAGAAGAG	NCBI36
NG_007381.1:g.30277_30278insTGGGGAGAAGAG
NG_012825.2:g.3313_3314insTGGGGAGAAGAG
NG_007381.2:g.30665_30666insTGGGGAGAAGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.*269_*270insTGGGGAGAAGAG	ENSP00000355741.2:n.*269_*270insTGGGGAGAAGAG
ENST00000366782.6:c.*269_*270insTGGGGAGAAGAG	ENSP00000355746.2:n.*269_*270insTGGGGAGAAGAG
ENST00000366783.8:c.*269_*270insTGGGGAGAAGAG MANE Select	ENSP00000355747.3:n.*269_*270insTGGGGAGAAGAG
ENST00000471728.2:n.2254_2255insTGGGGAGAAGAG
ENST00000524196.6:c.*269_*270insTGGGGAGAAGAG	ENSP00000429036.2:n.*269_*270insTGGGGAGAAGAG
ENST00000626989.3:c.*269_*270insTGGGGAGAAGAG	ENSP00000486498.2:n.*269_*270insTGGGGAGAAGAG
ENST00000676467.1:c.*1443_*1444insTGGGGAGAAGAG	ENSP00000504294.1:n.*1443_*1444insTGGGGAGAAGAG
ENST00000676747.1:c.1188+1723_1188+1724insTGGGGAGAAGAG	ENSP00000503244.1:n.1188+1723_1188+1724insTGGGGAGAAGAG
ENST00000676884.1:c.*269_*270insTGGGGAGAAGAG	ENSP00000503200.1:n.*269_*270insTGGGGAGAAGAG
ENST00000676888.1:c.*957_*958insTGGGGAGAAGAG	ENSP00000504483.1:n.*957_*958insTGGGGAGAAGAG
ENST00000676907.1:c.*1195_*1196insTGGGGAGAAGAG	ENSP00000504410.1:n.*1195_*1196insTGGGGAGAAGAG
ENST00000676945.1:c.1191+1723_1191+1724insTGGGGAGAAGAG	ENSP00000504433.1:n.1191+1723_1191+1724insTGGGGAGAAGAG
ENST00000677065.1:n.2177_2178insTGGGGAGAAGAG
ENST00000677414.1:c.*269_*270insTGGGGAGAAGAG	ENSP00000503116.1:n.*269_*270insTGGGGAGAAGAG
ENST00000677529.1:n.3346_3347insTGGGGAGAAGAG
ENST00000677596.1:c.*1838_*1839insTGGGGAGAAGAG	ENSP00000503618.1:n.*1838_*1839insTGGGGAGAAGAG
ENST00000677599.1:c.1191+1723_1191+1724insTGGGGAGAAGAG	ENSP00000503673.1:n.1191+1723_1191+1724insTGGGGAGAAGAG
ENST00000677748.1:n.3871_3872insTGGGGAGAAGAG
ENST00000677880.1:c.*269_*270insTGGGGAGAAGAG	ENSP00000503121.1:n.*269_*270insTGGGGAGAAGAG
ENST00000678021.1:c.*1239_*1240insTGGGGAGAAGAG	ENSP00000504674.1:n.*1239_*1240insTGGGGAGAAGAG
ENST00000678233.1:c.*8+261_*8+262insTGGGGAGAAGAG	ENSP00000504728.1:n.*8+261_*8+262insTGGGGAGAAGAG
ENST00000678320.1:c.*269_*270insTGGGGAGAAGAG	ENSP00000503680.1:n.*269_*270insTGGGGAGAAGAG
ENST00000678655.1:c.1092+1723_1092+1724insTGGGGAGAAGAG	ENSP00000504230.1:n.1092+1723_1092+1724insTGGGGAGAAGAG
ENST00000678706.1:c.*993_*994insTGGGGAGAAGAG	ENSP00000503659.1:n.*993_*994insTGGGGAGAAGAG
ENST00000678776.1:c.*1753_*1754insTGGGGAGAAGAG	ENSP00000504624.1:n.*1753_*1754insTGGGGAGAAGAG
ENST00000678784.1:c.1073-1872_1073-1871insTGGGGAGAAGAG	ENSP00000504652.1:n.1073-1872_1073-1871insTGGGGAGAAGAG
ENST00000678820.1:c.1089+1723_1089+1724insTGGGGAGAAGAG	ENSP00000504138.1:n.1089+1723_1089+1724insTGGGGAGAAGAG
ENST00000678835.1:c.*757-1872_*757-1871insTGGGGAGAAGAG	ENSP00000504343.1:n.*757-1872_*757-1871insTGGGGAGAAGAG
ENST00000679088.1:c.*269_*270insTGGGGAGAAGAG	ENSP00000504727.1:n.*269_*270insTGGGGAGAAGAG
ENST00000679098.1:c.*8+261_*8+262insTGGGGAGAAGAG	ENSP00000504303.1:n.*8+261_*8+262insTGGGGAGAAGAG
ENST00000366782.5:c.*269_*270insTGGGGAGAAGAG	ENSP00000355746.1:n.*269_*270insTGGGGAGAAGAG
ENST00000366783.7:c.*269_*270insTGGGGAGAAGAG	ENSP00000355747.3:n.*269_*270insTGGGGAGAAGAG
ENST00000626989.2:c.1715_1716insTGGGGAGAAGAG	ENSP00000486498.1:n.1715_1716insTGGGGAGAAGAG
NM_000447.2:c.*269_*270insTGGGGAGAAGAG	NP_000438.2:n.*269_*270insTGGGGAGAAGAG
NM_012486.2:c.*269_*270insTGGGGAGAAGAG	NP_036618.2:n.*269_*270insTGGGGAGAAGAG
XM_005273199.2:c.*269_*270insTGGGGAGAAGAG	XP_005273256.1:n.*269_*270insTGGGGAGAAGAG
XM_011544236.1:c.*269_*270insTGGGGAGAAGAG	XP_011542538.1:n.*269_*270insTGGGGAGAAGAG
XM_005273199.4:c.*269_*270insTGGGGAGAAGAG	XP_005273256.1:n.*269_*270insTGGGGAGAAGAG
XM_017001835.1:c.*269_*270insTGGGGAGAAGAG	XP_016857324.1:n.*269_*270insTGGGGAGAAGAG
XM_017001836.1:c.*269_*270insTGGGGAGAAGAG	XP_016857325.1:n.*269_*270insTGGGGAGAAGAG
XR_001737316.2:n.1478-1872_1478-1871insTGGGGAGAAGAG
XR_001737317.2:n.1478-1872_1478-1871insTGGGGAGAAGAG
XR_001737318.2:n.2331_2332insTGGGGAGAAGAG
XR_001737319.1:n.2674_2675insTGGGGAGAAGAG
XR_001737320.1:n.2671_2672insTGGGGAGAAGAG
XR_001737321.1:n.2166_2167insTGGGGAGAAGAG
XR_949149.2:n.2328_2329insTGGGGAGAAGAG
XR_949150.3:n.2547_2548insTGGGGAGAAGAG
NM_000447.3:c.*269_*270insTGGGGAGAAGAG MANE Select	NP_000438.2:n.*269_*270insTGGGGAGAAGAG
NM_012486.3:c.*269_*270insTGGGGAGAAGAG	NP_036618.2:n.*269_*270insTGGGGAGAAGAG