Canonical Allele Identifier: CA2574012091

Gene: PSEN2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226894010dup , CM000663.2:g.226894010dup	GRCh38
NC_000001.10:g.227081711dup , CM000663.1:g.227081711dup	GRCh37
NC_000001.9:g.225148334dup	NCBI36
NG_007381.1:g.28439dup
NG_012825.2:g.1475dup
NG_007381.2:g.28827dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.1076dup
ENST00000366782.6:c.1076dup
ENST00000366783.8:c.1076dup
ENST00000471728.2:n.1714dup
ENST00000524196.6:c.1076dup
ENST00000626989.3:c.1076dup
ENST00000676467.1:c.*903dup
ENST00000676747.1:c.1073dup
ENST00000676884.1:c.1076dup
ENST00000676888.1:c.*417dup
ENST00000676907.1:c.*655dup
ENST00000676945.1:c.1076dup
ENST00000677065.1:n.1637dup
ENST00000677414.1:c.1076dup
ENST00000677529.1:n.2806dup
ENST00000677596.1:c.*1298dup
ENST00000677599.1:c.1076dup
ENST00000677748.1:n.3331dup
ENST00000677880.1:c.641dup
ENST00000678021.1:c.*699dup
ENST00000678233.1:c.1076dup
ENST00000678320.1:c.977dup
ENST00000678655.1:c.977dup
ENST00000678706.1:c.*453dup
ENST00000678776.1:c.*1213dup
ENST00000678784.1:c.1072+2166dup	ENSP00000504652.1:n.1072+2166dup
ENST00000678820.1:c.974dup
ENST00000678835.1:c.*756+2166dup	ENSP00000504343.1:n.*756+2166dup
ENST00000679088.1:c.1076dup
ENST00000679098.1:c.1076dup
ENST00000366782.5:c.1175dup
ENST00000366783.7:c.1076dup
ENST00000422240.6:c.1073dup
ENST00000471728.1:n.334dup
ENST00000472139.2:c.644dup
ENST00000626989.2:c.1175dup
NM_000447.2:c.1076dup
NM_012486.2:c.1073dup
XM_005273199.2:c.1076dup
XM_011544236.1:c.644dup
XR_949149.1:n.1810dup
XM_005273199.4:c.1076dup
XM_017001835.1:c.1076dup
XM_017001836.1:c.1073dup
XR_001737316.2:n.1477+2166dup
XR_001737317.2:n.1477+2166dup
XR_001737318.2:n.1791dup
XR_001737319.1:n.2134dup
XR_001737320.1:n.2131dup
XR_001737321.1:n.1626dup
XR_949149.2:n.1788dup
XR_949150.3:n.2007dup
NM_000447.3:c.1076dup
NM_012486.3:c.1073dup