Canonical Allele Identifier: CA732356747

Gene: PSEN2

Linked Data

• dbSNP Id: rs1338914406
• gnomAD v4: 1-226896090-C-T
• MyVariant Identifiers: chr1:g.227083791C>T (hg19) ; chr1:g.226896090C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226896090C>T , CM000663.2:g.226896090C>T	GRCh38
NC_000001.10:g.227083791C>T , CM000663.1:g.227083791C>T	GRCh37
NC_000001.9:g.225150414C>T	NCBI36
NG_007381.1:g.30519C>T
NG_012825.2:g.3555C>T
NG_007381.2:g.30907C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.*511C>T	ENSP00000355741.2:n.*511C>T
ENST00000366782.6:c.*511C>T	ENSP00000355746.2:n.*511C>T
ENST00000366783.8:c.*511C>T MANE Select	ENSP00000355747.3:n.*511C>T
ENST00000524196.6:c.*511C>T	ENSP00000429036.2:n.*511C>T
ENST00000676747.1:c.1189-1630C>T	ENSP00000503244.1:n.1189-1630C>T
ENST00000676884.1:c.*511C>T	ENSP00000503200.1:n.*511C>T
ENST00000676945.1:c.1191+1965C>T	ENSP00000504433.1:n.1191+1965C>T
ENST00000677599.1:c.1191+1965C>T	ENSP00000503673.1:n.1191+1965C>T
ENST00000678233.1:c.*8+503C>T	ENSP00000504728.1:n.*8+503C>T
ENST00000678655.1:c.1093-1630C>T	ENSP00000504230.1:n.1093-1630C>T
ENST00000678784.1:c.1073-1630C>T	ENSP00000504652.1:n.1073-1630C>T
ENST00000678820.1:c.1090-1630C>T	ENSP00000504138.1:n.1090-1630C>T
ENST00000678835.1:c.*757-1630C>T	ENSP00000504343.1:n.*757-1630C>T
ENST00000679098.1:c.*8+503C>T	ENSP00000504303.1:n.*8+503C>T
ENST00000366782.5:c.*511C>T	ENSP00000355746.1:n.*511C>T
ENST00000366783.7:c.*511C>T	ENSP00000355747.3:n.*511C>T
ENST00000626989.2:c.1957C>T	ENSP00000486498.1:n.1957C>T
NM_000447.2:c.*511C>T	NP_000438.2:n.*511C>T
NM_012486.2:c.*511C>T	NP_036618.2:n.*511C>T
XM_005273199.2:c.*511C>T	XP_005273256.1:n.*511C>T
XM_011544236.1:c.*511C>T	XP_011542538.1:n.*511C>T
XM_005273199.4:c.*511C>T	XP_005273256.1:n.*511C>T
XM_017001835.1:c.*511C>T	XP_016857324.1:n.*511C>T
XM_017001836.1:c.*511C>T	XP_016857325.1:n.*511C>T
XR_001737316.2:n.1478-1630C>T
XR_001737317.2:n.1478-1630C>T
XR_001737318.2:n.2573C>T
XR_001737319.1:n.2916C>T
XR_001737320.1:n.2913C>T
XR_001737321.1:n.2408C>T
XR_949149.2:n.2570C>T
XR_949150.3:n.2789C>T
NM_000447.3:c.*511C>T MANE Select	NP_000438.2:n.*511C>T
NM_012486.3:c.*511C>T	NP_036618.2:n.*511C>T