Canonical Allele Identifier: CA10609252

Gene: PSEN2

Linked Data

• ClinVar Variation Id: 295984
• ClinVar RCV Id: RCV000269820 ; RCV000315539
• dbSNP Id: rs886046061
• gnomAD v4: 1-226875427-A-G
• MyVariant Identifiers: chr1:g.227063128A>G (hg19) ; chr1:g.226875427A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226875427A>G , CM000663.2:g.226875427A>G	GRCh38
NC_000001.10:g.227063128A>G , CM000663.1:g.227063128A>G	GRCh37
NC_000001.9:g.225129751A>G	NCBI36
NG_007381.1:g.9856A>G
NG_007381.2:g.10244A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.-144A>G	ENSP00000355741.2:n.-144A>G
ENST00000366782.6:c.-400A>G	ENSP00000355746.2:n.-400A>G
ENST00000366783.8:c.-144A>G MANE Select	ENSP00000355747.3:n.-144A>G
ENST00000524196.6:c.-144A>G	ENSP00000429036.2:n.-144A>G
ENST00000676467.1:c.-144A>G	ENSP00000504294.1:n.-144A>G
ENST00000676747.1:c.-144A>G	ENSP00000503244.1:n.-144A>G
ENST00000676840.1:c.-144A>G	ENSP00000504318.1:n.-144A>G
ENST00000676884.1:c.-144A>G	ENSP00000503200.1:n.-144A>G
ENST00000676888.1:c.-144A>G	ENSP00000504483.1:n.-144A>G
ENST00000676907.1:c.-144A>G	ENSP00000504410.1:n.-144A>G
ENST00000676945.1:c.-144A>G	ENSP00000504433.1:n.-144A>G
ENST00000677414.1:c.-144A>G	ENSP00000503116.1:n.-144A>G
ENST00000677529.1:n.295A>G
ENST00000677596.1:c.-144A>G	ENSP00000503618.1:n.-144A>G
ENST00000677599.1:c.-144A>G	ENSP00000503673.1:n.-144A>G
ENST00000677748.1:n.295A>G
ENST00000677880.1:c.-277A>G	ENSP00000503121.1:n.-277A>G
ENST00000678021.1:c.-144A>G	ENSP00000504674.1:n.-144A>G
ENST00000678233.1:c.-144A>G	ENSP00000504728.1:n.-144A>G
ENST00000678320.1:c.-144A>G	ENSP00000503680.1:n.-144A>G
ENST00000678655.1:c.-144A>G	ENSP00000504230.1:n.-144A>G
ENST00000678706.1:c.-144A>G	ENSP00000503659.1:n.-144A>G
ENST00000678776.1:c.-144A>G	ENSP00000504624.1:n.-144A>G
ENST00000678784.1:c.-144A>G	ENSP00000504652.1:n.-144A>G
ENST00000678820.1:c.-144A>G	ENSP00000504138.1:n.-144A>G
ENST00000678835.1:c.-144A>G	ENSP00000504343.1:n.-144A>G
ENST00000679088.1:c.-1592A>G	ENSP00000504727.1:n.-1592A>G
ENST00000679098.1:c.-144A>G	ENSP00000504303.1:n.-144A>G
ENST00000366782.5:c.-301A>G	ENSP00000355746.1:n.-301A>G
ENST00000366783.7:c.-144A>G	ENSP00000355747.3:n.-144A>G
ENST00000422240.6:c.-144A>G	ENSP00000403737.2:n.-144A>G
ENST00000460775.5:c.-145A>G	ENSP00000427912.1:n.-145A>G
ENST00000495488.5:c.-144A>G	ENSP00000429682.1:n.-144A>G
ENST00000521431.1:n.605A>G
ENST00000524196.5:c.-144A>G	ENSP00000429036.1:n.-144A>G
NM_000447.2:c.-144A>G	NP_000438.2:n.-144A>G
NM_012486.2:c.-144A>G	NP_036618.2:n.-144A>G
XM_005273199.2:c.-144A>G	XP_005273256.1:n.-144A>G
XM_011544236.1:c.-200A>G	XP_011542538.1:n.-200A>G
XR_949149.1:n.284A>G
XR_949150.1:n.284A>G
XM_005273199.4:c.-144A>G	XP_005273256.1:n.-144A>G
XM_017001835.1:c.-144A>G	XP_016857324.1:n.-144A>G
XM_017001836.1:c.-144A>G	XP_016857325.1:n.-144A>G
XR_001737316.2:n.262A>G
XR_001737317.2:n.262A>G
XR_001737318.2:n.262A>G
XR_001737319.1:n.605A>G
XR_001737320.1:n.605A>G
XR_001737321.1:n.97A>G
XR_949149.2:n.262A>G
XR_949150.3:n.262A>G
NM_000447.3:c.-144A>G MANE Select	NP_000438.2:n.-144A>G
NM_012486.3:c.-144A>G	NP_036618.2:n.-144A>G