Canonical Allele Identifier: CA529464581

Gene: PSEN2

Linked Data

• dbSNP Id: rs1558155812
• gnomAD v2: 1-227083191-ATCACGTTCGGGC-A
• gnomAD v3: 1-226895490-ATCACGTTCGGGC-A
• gnomAD v4: 1-226895490-ATCACGTTCGGGC-A
• MyVariant Identifiers: chr1:g.227083192_227083203del (hg19) ; chr1:g.226895491_226895502del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226895494_226895505del , CM000663.2:g.226895494_226895505del	GRCh38
NC_000001.10:g.227083195_227083206del , CM000663.1:g.227083195_227083206del	GRCh37
NC_000001.9:g.225149818_225149829del	NCBI36
NG_007381.1:g.29923_29934del
NG_012825.2:g.2959_2970del
NG_007381.2:g.30311_30322del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.1262_1273del	ENSP00000355741.2:p.Thr421_Leu424del
ENST00000366782.6:c.1262_1273del	ENSP00000355746.2:p.Thr421_Leu424del
ENST00000366783.8:c.1262_1273del MANE Select	ENSP00000355747.3:p.Thr421_Leu424del
ENST00000471728.2:n.1900_1911del
ENST00000524196.6:c.1262_1273del	ENSP00000429036.2:p.Thr421_Leu424del
ENST00000626989.3:c.1262_1273del	ENSP00000486498.2:p.Thr421_Leu424del
ENST00000676467.1:c.*1089_*1100del	ENSP00000504294.1:n.*1089_*1100del
ENST00000676747.1:c.1188+1369_1188+1380del	ENSP00000503244.1:n.1188+1369_1188+1380del
ENST00000676884.1:c.1262_1273del	ENSP00000503200.1:p.Thr421_Leu424del
ENST00000676888.1:c.*603_*614del	ENSP00000504483.1:n.*603_*614del
ENST00000676907.1:c.*841_*852del	ENSP00000504410.1:n.*841_*852del
ENST00000676945.1:c.1191+1369_1191+1380del	ENSP00000504433.1:n.1191+1369_1191+1380del
ENST00000677065.1:n.1823_1834del
ENST00000677414.1:c.1262_1273del	ENSP00000503116.1:p.Thr421_Leu424del
ENST00000677529.1:n.2992_3003del
ENST00000677596.1:c.*1484_*1495del	ENSP00000503618.1:n.*1484_*1495del
ENST00000677599.1:c.1191+1369_1191+1380del	ENSP00000503673.1:n.1191+1369_1191+1380del
ENST00000677748.1:n.3517_3528del
ENST00000677880.1:c.827_838del	ENSP00000503121.1:p.Thr276_Leu279del
ENST00000678021.1:c.*885_*896del	ENSP00000504674.1:n.*885_*896del
ENST00000678233.1:c.1262_1273del	ENSP00000504728.1:p.Thr421_Leu424del
ENST00000678320.1:c.1163_1174del	ENSP00000503680.1:p.Thr388_Leu391del
ENST00000678655.1:c.1092+1369_1092+1380del	ENSP00000504230.1:n.1092+1369_1092+1380del
ENST00000678706.1:c.*639_*650del	ENSP00000503659.1:n.*639_*650del
ENST00000678776.1:c.*1399_*1410del	ENSP00000504624.1:n.*1399_*1410del
ENST00000678784.1:c.1073-2226_1073-2215del	ENSP00000504652.1:n.1073-2226_1073-2215del
ENST00000678820.1:c.1089+1369_1089+1380del	ENSP00000504138.1:n.1089+1369_1089+1380del
ENST00000678835.1:c.*757-2226_*757-2215del	ENSP00000504343.1:n.*757-2226_*757-2215del
ENST00000679088.1:c.1262_1273del	ENSP00000504727.1:p.Thr421_Leu424del
ENST00000679098.1:c.1262_1273del	ENSP00000504303.1:p.Thr421_Leu424del
ENST00000366782.5:c.1361_1372del	ENSP00000355746.1:p.Thr454_Leu457del
ENST00000366783.7:c.1262_1273del	ENSP00000355747.3:p.Thr421_Leu424del
ENST00000422240.6:c.1259_1270del	ENSP00000403737.2:p.Thr420_Leu423del
ENST00000471728.1:n.520_531del
ENST00000472139.2:c.830_841del	ENSP00000427806.1:p.Thr277_Leu280del
ENST00000626989.2:c.1361_1372del	ENSP00000486498.1:p.Thr454_Leu457del
NM_000447.2:c.1262_1273del	NP_000438.2:p.Thr421_Leu424del
NM_012486.2:c.1259_1270del	NP_036618.2:p.Thr420_Leu423del
XM_005273199.2:c.1262_1273del	XP_005273256.1:p.Thr421_Leu424del
XM_011544236.1:c.830_841del	XP_011542538.1:p.Thr277_Leu280del
XR_949149.1:n.1996_2007del
XM_005273199.4:c.1262_1273del	XP_005273256.1:p.Thr421_Leu424del
XM_017001835.1:c.1262_1273del	XP_016857324.1:p.Thr421_Leu424del
XM_017001836.1:c.1259_1270del	XP_016857325.1:p.Thr420_Leu423del
XR_001737316.2:n.1478-2226_1478-2215del
XR_001737317.2:n.1478-2226_1478-2215del
XR_001737318.2:n.1977_1988del
XR_001737319.1:n.2320_2331del
XR_001737320.1:n.2317_2328del
XR_001737321.1:n.1812_1823del
XR_949149.2:n.1974_1985del
XR_949150.3:n.2193_2204del
NM_000447.3:c.1262_1273del MANE Select	NP_000438.2:p.Thr421_Leu424del
NM_012486.3:c.1259_1270del	NP_036618.2:p.Thr420_Leu423del