Canonical Allele Identifier: CA1424883

Gene: PSEN2

Linked Data

• dbSNP Id: rs371693894
• ExAC: 1:227083286 A / G
• gnomAD v2: 1-227083286-A-G
• gnomAD v3: 1-226895585-A-G
• gnomAD v4: 1-226895585-A-G
• MyVariant Identifiers: chr1:g.227083286A>G (hg19) ; chr1:g.226895585A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226895585A>G , CM000663.2:g.226895585A>G	GRCh38
NC_000001.10:g.227083286A>G , CM000663.1:g.227083286A>G	GRCh37
NC_000001.9:g.225149909A>G	NCBI36
NG_007381.1:g.30014A>G
NG_012825.2:g.3050A>G
NG_007381.2:g.30402A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.*6A>G	ENSP00000355741.2:n.*6A>G
ENST00000366782.6:c.*6A>G	ENSP00000355746.2:n.*6A>G
ENST00000366783.8:c.*6A>G MANE Select	ENSP00000355747.3:n.*6A>G
ENST00000471728.2:n.1991A>G
ENST00000524196.6:c.*6A>G	ENSP00000429036.2:n.*6A>G
ENST00000626989.3:c.*6A>G	ENSP00000486498.2:n.*6A>G
ENST00000676467.1:c.*1180A>G	ENSP00000504294.1:n.*1180A>G
ENST00000676747.1:c.1188+1460A>G	ENSP00000503244.1:n.1188+1460A>G
ENST00000676884.1:c.*6A>G	ENSP00000503200.1:n.*6A>G
ENST00000676888.1:c.*694A>G	ENSP00000504483.1:n.*694A>G
ENST00000676907.1:c.*932A>G	ENSP00000504410.1:n.*932A>G
ENST00000676945.1:c.1191+1460A>G	ENSP00000504433.1:n.1191+1460A>G
ENST00000677065.1:n.1914A>G
ENST00000677414.1:c.*6A>G	ENSP00000503116.1:n.*6A>G
ENST00000677529.1:n.3083A>G
ENST00000677596.1:c.*1575A>G	ENSP00000503618.1:n.*1575A>G
ENST00000677599.1:c.1191+1460A>G	ENSP00000503673.1:n.1191+1460A>G
ENST00000677748.1:n.3608A>G
ENST00000677880.1:c.*6A>G	ENSP00000503121.1:n.*6A>G
ENST00000678021.1:c.*976A>G	ENSP00000504674.1:n.*976A>G
ENST00000678233.1:c.*6A>G	ENSP00000504728.1:n.*6A>G
ENST00000678320.1:c.*6A>G	ENSP00000503680.1:n.*6A>G
ENST00000678655.1:c.1092+1460A>G	ENSP00000504230.1:n.1092+1460A>G
ENST00000678706.1:c.*730A>G	ENSP00000503659.1:n.*730A>G
ENST00000678776.1:c.*1490A>G	ENSP00000504624.1:n.*1490A>G
ENST00000678784.1:c.1073-2135A>G	ENSP00000504652.1:n.1073-2135A>G
ENST00000678820.1:c.1089+1460A>G	ENSP00000504138.1:n.1089+1460A>G
ENST00000678835.1:c.*757-2135A>G	ENSP00000504343.1:n.*757-2135A>G
ENST00000679088.1:c.*6A>G	ENSP00000504727.1:n.*6A>G
ENST00000679098.1:c.*6A>G	ENSP00000504303.1:n.*6A>G
ENST00000366782.5:c.*6A>G	ENSP00000355746.1:n.*6A>G
ENST00000366783.7:c.*6A>G	ENSP00000355747.3:n.*6A>G
ENST00000422240.6:c.*6A>G	ENSP00000403737.2:n.*6A>G
ENST00000472139.2:c.*6A>G	ENSP00000427806.1:n.*6A>G
ENST00000626989.2:c.1452A>G	ENSP00000486498.1:n.1452A>G
NM_000447.2:c.*6A>G	NP_000438.2:n.*6A>G
NM_012486.2:c.*6A>G	NP_036618.2:n.*6A>G
XM_005273199.2:c.*6A>G	XP_005273256.1:n.*6A>G
XM_011544236.1:c.*6A>G	XP_011542538.1:n.*6A>G
XM_005273199.4:c.*6A>G	XP_005273256.1:n.*6A>G
XM_017001835.1:c.*6A>G	XP_016857324.1:n.*6A>G
XM_017001836.1:c.*6A>G	XP_016857325.1:n.*6A>G
XR_001737316.2:n.1478-2135A>G
XR_001737317.2:n.1478-2135A>G
XR_001737318.2:n.2068A>G
XR_001737319.1:n.2411A>G
XR_001737320.1:n.2408A>G
XR_001737321.1:n.1903A>G
XR_949149.2:n.2065A>G
XR_949150.3:n.2284A>G
NM_000447.3:c.*6A>G MANE Select	NP_000438.2:n.*6A>G
NM_012486.3:c.*6A>G	NP_036618.2:n.*6A>G