Canonical Allele Identifier: CA1424882

Gene: PSEN2

Linked Data

• dbSNP Id: rs200164062
• ExAC: 1:227083283 G / A
• gnomAD v2: 1-227083283-G-A
• gnomAD v3: 1-226895582-G-A
• gnomAD v4: 1-226895582-G-A
• MyVariant Identifiers: chr1:g.227083283G>A (hg19) ; chr1:g.226895582G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226895582G>A , CM000663.2:g.226895582G>A	GRCh38
NC_000001.10:g.227083283G>A , CM000663.1:g.227083283G>A	GRCh37
NC_000001.9:g.225149906G>A	NCBI36
NG_007381.1:g.30011G>A
NG_012825.2:g.3047G>A
NG_007381.2:g.30399G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000366779.6:c.*3G>A	ENSP00000355741.2:n.*3G>A
ENST00000366782.6:c.*3G>A	ENSP00000355746.2:n.*3G>A
ENST00000366783.8:c.*3G>A MANE Select	ENSP00000355747.3:n.*3G>A
ENST00000471728.2:n.1988G>A
ENST00000524196.6:c.*3G>A	ENSP00000429036.2:n.*3G>A
ENST00000626989.3:c.*3G>A	ENSP00000486498.2:n.*3G>A
ENST00000676467.1:c.*1177G>A	ENSP00000504294.1:n.*1177G>A
ENST00000676747.1:c.1188+1457G>A	ENSP00000503244.1:n.1188+1457G>A
ENST00000676884.1:c.*3G>A	ENSP00000503200.1:n.*3G>A
ENST00000676888.1:c.*691G>A	ENSP00000504483.1:n.*691G>A
ENST00000676907.1:c.*929G>A	ENSP00000504410.1:n.*929G>A
ENST00000676945.1:c.1191+1457G>A	ENSP00000504433.1:n.1191+1457G>A
ENST00000677065.1:n.1911G>A
ENST00000677414.1:c.*3G>A	ENSP00000503116.1:n.*3G>A
ENST00000677529.1:n.3080G>A
ENST00000677596.1:c.*1572G>A	ENSP00000503618.1:n.*1572G>A
ENST00000677599.1:c.1191+1457G>A	ENSP00000503673.1:n.1191+1457G>A
ENST00000677748.1:n.3605G>A
ENST00000677880.1:c.*3G>A	ENSP00000503121.1:n.*3G>A
ENST00000678021.1:c.*973G>A	ENSP00000504674.1:n.*973G>A
ENST00000678233.1:c.*3G>A	ENSP00000504728.1:n.*3G>A
ENST00000678320.1:c.*3G>A	ENSP00000503680.1:n.*3G>A
ENST00000678655.1:c.1092+1457G>A	ENSP00000504230.1:n.1092+1457G>A
ENST00000678706.1:c.*727G>A	ENSP00000503659.1:n.*727G>A
ENST00000678776.1:c.*1487G>A	ENSP00000504624.1:n.*1487G>A
ENST00000678784.1:c.1073-2138G>A	ENSP00000504652.1:n.1073-2138G>A
ENST00000678820.1:c.1089+1457G>A	ENSP00000504138.1:n.1089+1457G>A
ENST00000678835.1:c.*757-2138G>A	ENSP00000504343.1:n.*757-2138G>A
ENST00000679088.1:c.*3G>A	ENSP00000504727.1:n.*3G>A
ENST00000679098.1:c.*3G>A	ENSP00000504303.1:n.*3G>A
ENST00000366782.5:c.*3G>A	ENSP00000355746.1:n.*3G>A
ENST00000366783.7:c.*3G>A	ENSP00000355747.3:n.*3G>A
ENST00000422240.6:c.*3G>A	ENSP00000403737.2:n.*3G>A
ENST00000472139.2:c.*3G>A	ENSP00000427806.1:n.*3G>A
ENST00000626989.2:c.1449G>A	ENSP00000486498.1:n.1449G>A
NM_000447.2:c.*3G>A	NP_000438.2:n.*3G>A
NM_012486.2:c.*3G>A	NP_036618.2:n.*3G>A
XM_005273199.2:c.*3G>A	XP_005273256.1:n.*3G>A
XM_011544236.1:c.*3G>A	XP_011542538.1:n.*3G>A
XM_005273199.4:c.*3G>A	XP_005273256.1:n.*3G>A
XM_017001835.1:c.*3G>A	XP_016857324.1:n.*3G>A
XM_017001836.1:c.*3G>A	XP_016857325.1:n.*3G>A
XR_001737316.2:n.1478-2138G>A
XR_001737317.2:n.1478-2138G>A
XR_001737318.2:n.2065G>A
XR_001737319.1:n.2408G>A
XR_001737320.1:n.2405G>A
XR_001737321.1:n.1900G>A
XR_949149.2:n.2062G>A
XR_949150.3:n.2281G>A
NM_000447.3:c.*3G>A MANE Select	NP_000438.2:n.*3G>A
NM_012486.3:c.*3G>A	NP_036618.2:n.*3G>A