Canonical Allele Identifier: CA529464582

Gene: PSEN2

Linked Data

• dbSNP Id: rs1473143142
• gnomAD v2: 1-227083228-AC-A
• gnomAD v4: 1-226895527-AC-A
• MyVariant Identifiers: chr1:g.227083229del (hg19) ; chr1:g.226895528del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226895529del , CM000663.2:g.226895529del	GRCh38
NC_000001.10:g.227083230del , CM000663.1:g.227083230del	GRCh37
NC_000001.9:g.225149853del	NCBI36
NG_007381.1:g.29958del
NG_012825.2:g.2994del
NG_007381.2:g.30346del

Transcript Alleles

HGVS	Amino-acid change
ENST00000366779.6:c.1297del	ENSP00000355741.2:p.Leu433TrpfsTer?
ENST00000366782.6:c.1297del	ENSP00000355746.2:p.Leu433TrpfsTer?
ENST00000366783.8:c.1297del MANE Select	ENSP00000355747.3:p.Leu433TrpfsTer?
ENST00000471728.2:n.1935del
ENST00000524196.6:c.1297del	ENSP00000429036.2:p.Leu433TrpfsTer?
ENST00000626989.3:c.1297del	ENSP00000486498.2:p.Leu433TrpfsTer?
ENST00000676467.1:c.*1124del	ENSP00000504294.1:n.*1124del
ENST00000676747.1:c.1188+1404del	ENSP00000503244.1:n.1188+1404del
ENST00000676884.1:c.1297del	ENSP00000503200.1:p.Leu433TrpfsTer?
ENST00000676888.1:c.*638del	ENSP00000504483.1:n.*638del
ENST00000676907.1:c.*876del	ENSP00000504410.1:n.*876del
ENST00000676945.1:c.1191+1404del	ENSP00000504433.1:n.1191+1404del
ENST00000677065.1:n.1858del
ENST00000677414.1:c.1297del	ENSP00000503116.1:p.Leu433TrpfsTer?
ENST00000677529.1:n.3027del
ENST00000677596.1:c.*1519del	ENSP00000503618.1:n.*1519del
ENST00000677599.1:c.1191+1404del	ENSP00000503673.1:n.1191+1404del
ENST00000677748.1:n.3552del
ENST00000677880.1:c.862del	ENSP00000503121.1:p.Leu288TrpfsTer?
ENST00000678021.1:c.*920del	ENSP00000504674.1:n.*920del
ENST00000678233.1:c.1297del	ENSP00000504728.1:p.Leu433TrpfsTer30
ENST00000678320.1:c.1198del	ENSP00000503680.1:p.Leu400TrpfsTer?
ENST00000678655.1:c.1092+1404del	ENSP00000504230.1:n.1092+1404del
ENST00000678706.1:c.*674del	ENSP00000503659.1:n.*674del
ENST00000678776.1:c.*1434del	ENSP00000504624.1:n.*1434del
ENST00000678784.1:c.1073-2191del	ENSP00000504652.1:n.1073-2191del
ENST00000678820.1:c.1089+1404del	ENSP00000504138.1:n.1089+1404del
ENST00000678835.1:c.*757-2191del	ENSP00000504343.1:n.*757-2191del
ENST00000679088.1:c.1297del	ENSP00000504727.1:p.Leu433TrpfsTer?
ENST00000679098.1:c.1297del	ENSP00000504303.1:p.Leu433TrpfsTer30
ENST00000366782.5:c.1396del	ENSP00000355746.1:p.Leu466TrpfsTer?
ENST00000366783.7:c.1297del	ENSP00000355747.3:p.Leu433TrpfsTer?
ENST00000422240.6:c.1294del	ENSP00000403737.2:p.Leu432TrpfsTer?
ENST00000471728.1:n.555del
ENST00000472139.2:c.865del	ENSP00000427806.1:p.Leu289TrpfsTer?
ENST00000626989.2:c.1396del	ENSP00000486498.1:p.Leu466TrpfsTer?
NM_000447.2:c.1297del	NP_000438.2:p.Leu433TrpfsTer?
NM_012486.2:c.1294del	NP_036618.2:p.Leu432TrpfsTer?
XM_005273199.2:c.1297del	XP_005273256.1:p.Leu433TrpfsTer?
XM_011544236.1:c.865del	XP_011542538.1:p.Leu289TrpfsTer?
XR_949149.1:n.2031del
XM_005273199.4:c.1297del	XP_005273256.1:p.Leu433TrpfsTer?
XM_017001835.1:c.1297del	XP_016857324.1:p.Leu433TrpfsTer?
XM_017001836.1:c.1294del	XP_016857325.1:p.Leu432TrpfsTer?
XR_001737316.2:n.1478-2191del
XR_001737317.2:n.1478-2191del
XR_001737318.2:n.2012del
XR_001737319.1:n.2355del
XR_001737320.1:n.2352del
XR_001737321.1:n.1847del
XR_949149.2:n.2009del
XR_949150.3:n.2228del
NM_000447.3:c.1297del MANE Select	NP_000438.2:p.Leu433TrpfsTer?
NM_012486.3:c.1294del	NP_036618.2:p.Leu432TrpfsTer?