Canonical Allele Identifier: CA345045418

Gene: PSEN2

Linked Data

• gnomAD v4: 1-226895528-C-A
• MyVariant Identifiers: chr1:g.227083229C>A (hg19) ; chr1:g.226895528C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226895528C>A , CM000663.2:g.226895528C>A	GRCh38
NC_000001.10:g.227083229C>A , CM000663.1:g.227083229C>A	GRCh37
NC_000001.9:g.225149852C>A	NCBI36
NG_007381.1:g.29957C>A
NG_012825.2:g.2993C>A
NG_007381.2:g.30345C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000366779.6:c.1296C>A	ENSP00000355741.2:p.Asn432Lys
ENST00000366782.6:c.1296C>A	ENSP00000355746.2:p.Asn432Lys
ENST00000366783.8:c.1296C>A MANE Select	ENSP00000355747.3:p.Asn432Lys
ENST00000471728.2:n.1934C>A
ENST00000524196.6:c.1296C>A	ENSP00000429036.2:p.Asn432Lys
ENST00000626989.3:c.1296C>A	ENSP00000486498.2:p.Asn432Lys
ENST00000676467.1:c.*1123C>A	ENSP00000504294.1:n.*1123C>A
ENST00000676747.1:c.1188+1403C>A	ENSP00000503244.1:n.1188+1403C>A
ENST00000676884.1:c.1296C>A	ENSP00000503200.1:p.Asn432Lys
ENST00000676888.1:c.*637C>A	ENSP00000504483.1:n.*637C>A
ENST00000676907.1:c.*875C>A	ENSP00000504410.1:n.*875C>A
ENST00000676945.1:c.1191+1403C>A	ENSP00000504433.1:n.1191+1403C>A
ENST00000677065.1:n.1857C>A
ENST00000677414.1:c.1296C>A	ENSP00000503116.1:p.Asn432Lys
ENST00000677529.1:n.3026C>A
ENST00000677596.1:c.*1518C>A	ENSP00000503618.1:n.*1518C>A
ENST00000677599.1:c.1191+1403C>A	ENSP00000503673.1:n.1191+1403C>A
ENST00000677748.1:n.3551C>A
ENST00000677880.1:c.861C>A	ENSP00000503121.1:p.Asn287Lys
ENST00000678021.1:c.*919C>A	ENSP00000504674.1:n.*919C>A
ENST00000678233.1:c.1296C>A	ENSP00000504728.1:p.Asn432Lys
ENST00000678320.1:c.1197C>A	ENSP00000503680.1:p.Asn399Lys
ENST00000678655.1:c.1092+1403C>A	ENSP00000504230.1:n.1092+1403C>A
ENST00000678706.1:c.*673C>A	ENSP00000503659.1:n.*673C>A
ENST00000678776.1:c.*1433C>A	ENSP00000504624.1:n.*1433C>A
ENST00000678784.1:c.1073-2192C>A	ENSP00000504652.1:n.1073-2192C>A
ENST00000678820.1:c.1089+1403C>A	ENSP00000504138.1:n.1089+1403C>A
ENST00000678835.1:c.*757-2192C>A	ENSP00000504343.1:n.*757-2192C>A
ENST00000679088.1:c.1296C>A	ENSP00000504727.1:p.Asn432Lys
ENST00000679098.1:c.1296C>A	ENSP00000504303.1:p.Asn432Lys
ENST00000366782.5:c.1395C>A	ENSP00000355746.1:p.Asn465Lys
ENST00000366783.7:c.1296C>A	ENSP00000355747.3:p.Asn432Lys
ENST00000422240.6:c.1293C>A	ENSP00000403737.2:p.Asn431Lys
ENST00000471728.1:n.554C>A
ENST00000472139.2:c.864C>A	ENSP00000427806.1:p.Asn288Lys
ENST00000626989.2:c.1395C>A	ENSP00000486498.1:p.Asn465Lys
NM_000447.2:c.1296C>A	NP_000438.2:p.Asn432Lys
NM_012486.2:c.1293C>A	NP_036618.2:p.Asn431Lys
XM_005273199.2:c.1296C>A	XP_005273256.1:p.Asn432Lys
XM_011544236.1:c.864C>A	XP_011542538.1:p.Asn288Lys
XR_949149.1:n.2030C>A
XM_005273199.4:c.1296C>A	XP_005273256.1:p.Asn432Lys
XM_017001835.1:c.1296C>A	XP_016857324.1:p.Asn432Lys
XM_017001836.1:c.1293C>A	XP_016857325.1:p.Asn431Lys
XR_001737316.2:n.1478-2192C>A
XR_001737317.2:n.1478-2192C>A
XR_001737318.2:n.2011C>A
XR_001737319.1:n.2354C>A
XR_001737320.1:n.2351C>A
XR_001737321.1:n.1846C>A
XR_949149.2:n.2008C>A
XR_949150.3:n.2227C>A
NM_000447.3:c.1296C>A MANE Select	NP_000438.2:p.Asn432Lys
NM_012486.3:c.1293C>A	NP_036618.2:p.Asn431Lys