Canonical Allele Identifier: CA732356749

Gene: PSEN2

Linked Data

• dbSNP Id: rs1249820286
• gnomAD v3: 1-226896092-G-A
• gnomAD v4: 1-226896092-G-A
• MyVariant Identifiers: chr1:g.227083793G>A (hg19) ; chr1:g.226896092G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226896092G>A , CM000663.2:g.226896092G>A	GRCh38
NC_000001.10:g.227083793G>A , CM000663.1:g.227083793G>A	GRCh37
NC_000001.9:g.225150416G>A	NCBI36
NG_007381.1:g.30521G>A
NG_012825.2:g.3557G>A
NG_007381.2:g.30909G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.*513G>A	ENSP00000355741.2:n.*513G>A
ENST00000366782.6:c.*513G>A	ENSP00000355746.2:n.*513G>A
ENST00000366783.8:c.*513G>A MANE Select	ENSP00000355747.3:n.*513G>A
ENST00000524196.6:c.*513G>A	ENSP00000429036.2:n.*513G>A
ENST00000676747.1:c.1189-1628G>A	ENSP00000503244.1:n.1189-1628G>A
ENST00000676884.1:c.*513G>A	ENSP00000503200.1:n.*513G>A
ENST00000676945.1:c.1191+1967G>A	ENSP00000504433.1:n.1191+1967G>A
ENST00000677599.1:c.1191+1967G>A	ENSP00000503673.1:n.1191+1967G>A
ENST00000678233.1:c.*8+505G>A	ENSP00000504728.1:n.*8+505G>A
ENST00000678655.1:c.1093-1628G>A	ENSP00000504230.1:n.1093-1628G>A
ENST00000678784.1:c.1073-1628G>A	ENSP00000504652.1:n.1073-1628G>A
ENST00000678820.1:c.1090-1628G>A	ENSP00000504138.1:n.1090-1628G>A
ENST00000678835.1:c.*757-1628G>A	ENSP00000504343.1:n.*757-1628G>A
ENST00000679098.1:c.*8+505G>A	ENSP00000504303.1:n.*8+505G>A
ENST00000366782.5:c.*513G>A	ENSP00000355746.1:n.*513G>A
ENST00000366783.7:c.*513G>A	ENSP00000355747.3:n.*513G>A
ENST00000626989.2:c.1959G>A	ENSP00000486498.1:n.1959G>A
NM_000447.2:c.*513G>A	NP_000438.2:n.*513G>A
NM_012486.2:c.*513G>A	NP_036618.2:n.*513G>A
XM_005273199.2:c.*513G>A	XP_005273256.1:n.*513G>A
XM_011544236.1:c.*513G>A	XP_011542538.1:n.*513G>A
XM_005273199.4:c.*513G>A	XP_005273256.1:n.*513G>A
XM_017001835.1:c.*513G>A	XP_016857324.1:n.*513G>A
XM_017001836.1:c.*513G>A	XP_016857325.1:n.*513G>A
XR_001737316.2:n.1478-1628G>A
XR_001737317.2:n.1478-1628G>A
XR_001737318.2:n.2575G>A
XR_001737319.1:n.2918G>A
XR_001737320.1:n.2915G>A
XR_001737321.1:n.2410G>A
XR_949149.2:n.2572G>A
XR_949150.3:n.2791G>A
NM_000447.3:c.*513G>A MANE Select	NP_000438.2:n.*513G>A
NM_012486.3:c.*513G>A	NP_036618.2:n.*513G>A