Canonical Allele Identifier: CA732356786

Gene: PSEN2

Linked Data

• dbSNP Id: rs1246799124
• MyVariant Identifiers: chr1:g.227083801C>G (hg19) ; chr1:g.226896100C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226896100C>G , CM000663.2:g.226896100C>G	GRCh38
NC_000001.10:g.227083801C>G , CM000663.1:g.227083801C>G	GRCh37
NC_000001.9:g.225150424C>G	NCBI36
NG_007381.1:g.30529C>G
NG_012825.2:g.3565C>G
NG_007381.2:g.30917C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.*521C>G	ENSP00000355741.2:n.*521C>G
ENST00000524196.6:c.*521C>G	ENSP00000429036.2:n.*521C>G
ENST00000676747.1:c.1189-1620C>G	ENSP00000503244.1:n.1189-1620C>G
ENST00000676884.1:c.*521C>G	ENSP00000503200.1:n.*521C>G
ENST00000676945.1:c.1191+1975C>G	ENSP00000504433.1:n.1191+1975C>G
ENST00000677599.1:c.1191+1975C>G	ENSP00000503673.1:n.1191+1975C>G
ENST00000678233.1:c.*8+513C>G	ENSP00000504728.1:n.*8+513C>G
ENST00000678655.1:c.1093-1620C>G	ENSP00000504230.1:n.1093-1620C>G
ENST00000678784.1:c.1073-1620C>G	ENSP00000504652.1:n.1073-1620C>G
ENST00000678820.1:c.1090-1620C>G	ENSP00000504138.1:n.1090-1620C>G
ENST00000678835.1:c.*757-1620C>G	ENSP00000504343.1:n.*757-1620C>G
ENST00000679098.1:c.*8+513C>G	ENSP00000504303.1:n.*8+513C>G
ENST00000366783.7:c.*521C>G	ENSP00000355747.3:n.*521C>G
ENST00000626989.2:c.1967C>G	ENSP00000486498.1:n.1967C>G
NM_000447.2:c.*521C>G	NP_000438.2:n.*521C>G
NM_012486.2:c.*521C>G	NP_036618.2:n.*521C>G
XM_005273199.2:c.*521C>G	XP_005273256.1:n.*521C>G
XM_011544236.1:c.*521C>G	XP_011542538.1:n.*521C>G
XM_005273199.4:c.*521C>G	XP_005273256.1:n.*521C>G
XM_017001835.1:c.*521C>G	XP_016857324.1:n.*521C>G
XM_017001836.1:c.*521C>G	XP_016857325.1:n.*521C>G
XR_001737316.2:n.1478-1620C>G
XR_001737317.2:n.1478-1620C>G
XR_001737318.2:n.2583C>G
XR_001737319.1:n.2926C>G
XR_001737320.1:n.2923C>G
XR_001737321.1:n.2418C>G
XR_949149.2:n.2580C>G
XR_949150.3:n.2799C>G