Canonical Allele Identifier: CA38627626

Gene: PSEN2

Linked Data

• dbSNP Id: rs200918027
• MyVariant Identifiers: chr1:g.227083830C>T (hg19) ; chr1:g.226896129C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226896129C>T , CM000663.2:g.226896129C>T	GRCh38
NC_000001.10:g.227083830C>T , CM000663.1:g.227083830C>T	GRCh37
NC_000001.9:g.225150453C>T	NCBI36
NG_007381.1:g.30558C>T
NG_012825.2:g.3594C>T
NG_007381.2:g.30946C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.*550C>T	ENSP00000355741.2:n.*550C>T
ENST00000524196.6:c.*550C>T	ENSP00000429036.2:n.*550C>T
ENST00000676747.1:c.1189-1591C>T	ENSP00000503244.1:n.1189-1591C>T
ENST00000676884.1:c.*550C>T	ENSP00000503200.1:n.*550C>T
ENST00000676945.1:c.1191+2004C>T	ENSP00000504433.1:n.1191+2004C>T
ENST00000677599.1:c.1191+2004C>T	ENSP00000503673.1:n.1191+2004C>T
ENST00000678233.1:c.*8+542C>T	ENSP00000504728.1:n.*8+542C>T
ENST00000678655.1:c.1093-1591C>T	ENSP00000504230.1:n.1093-1591C>T
ENST00000678784.1:c.1073-1591C>T	ENSP00000504652.1:n.1073-1591C>T
ENST00000678820.1:c.1090-1591C>T	ENSP00000504138.1:n.1090-1591C>T
ENST00000678835.1:c.*757-1591C>T	ENSP00000504343.1:n.*757-1591C>T
ENST00000679098.1:c.*8+542C>T	ENSP00000504303.1:n.*8+542C>T
XR_001737316.2:n.1478-1591C>T
XR_001737317.2:n.1478-1591C>T