Canonical Allele Identifier: CA38625041

Gene: PSEN2

Linked Data

• dbSNP Id: rs984596540
• gnomAD v3: 1-226893920-C-T
• gnomAD v4: 1-226893920-C-T
• MyVariant Identifiers: chr1:g.227081621C>T (hg19) ; chr1:g.226893920C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226893920C>T , CM000663.2:g.226893920C>T	GRCh38
NC_000001.10:g.227081621C>T , CM000663.1:g.227081621C>T	GRCh37
NC_000001.9:g.225148244C>T	NCBI36
NG_007381.1:g.28349C>T
NG_012825.2:g.1385C>T
NG_007381.2:g.28737C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.1073-87C>T	ENSP00000355741.2:n.1073-87C>T
ENST00000366782.6:c.1073-87C>T	ENSP00000355746.2:n.1073-87C>T
ENST00000366783.8:c.1073-87C>T MANE Select	ENSP00000355747.3:n.1073-87C>T
ENST00000471728.2:n.1711-87C>T
ENST00000524196.6:c.1073-87C>T	ENSP00000429036.2:n.1073-87C>T
ENST00000626989.3:c.1073-87C>T	ENSP00000486498.2:n.1073-87C>T
ENST00000676467.1:c.*900-87C>T	ENSP00000504294.1:n.*900-87C>T
ENST00000676747.1:c.1070-87C>T	ENSP00000503244.1:n.1070-87C>T
ENST00000676884.1:c.1073-87C>T	ENSP00000503200.1:n.1073-87C>T
ENST00000676888.1:c.*414-87C>T	ENSP00000504483.1:n.*414-87C>T
ENST00000676907.1:c.*652-87C>T	ENSP00000504410.1:n.*652-87C>T
ENST00000676945.1:c.1073-87C>T	ENSP00000504433.1:n.1073-87C>T
ENST00000677065.1:n.1634-87C>T
ENST00000677414.1:c.1073-87C>T	ENSP00000503116.1:n.1073-87C>T
ENST00000677529.1:n.2803-87C>T
ENST00000677596.1:c.*1295-87C>T	ENSP00000503618.1:n.*1295-87C>T
ENST00000677599.1:c.1073-87C>T	ENSP00000503673.1:n.1073-87C>T
ENST00000677748.1:n.3328-87C>T
ENST00000677880.1:c.638-87C>T	ENSP00000503121.1:n.638-87C>T
ENST00000678021.1:c.*696-87C>T	ENSP00000504674.1:n.*696-87C>T
ENST00000678233.1:c.1073-87C>T	ENSP00000504728.1:n.1073-87C>T
ENST00000678320.1:c.974-87C>T	ENSP00000503680.1:n.974-87C>T
ENST00000678655.1:c.974-87C>T	ENSP00000504230.1:n.974-87C>T
ENST00000678706.1:c.*450-87C>T	ENSP00000503659.1:n.*450-87C>T
ENST00000678776.1:c.*1210-87C>T	ENSP00000504624.1:n.*1210-87C>T
ENST00000678784.1:c.1072+2076C>T	ENSP00000504652.1:n.1072+2076C>T
ENST00000678820.1:c.971-87C>T	ENSP00000504138.1:n.971-87C>T
ENST00000678835.1:c.*756+2076C>T	ENSP00000504343.1:n.*756+2076C>T
ENST00000679088.1:c.1073-87C>T	ENSP00000504727.1:n.1073-87C>T
ENST00000679098.1:c.1073-87C>T	ENSP00000504303.1:n.1073-87C>T
ENST00000366782.5:c.1172-87C>T	ENSP00000355746.1:n.1172-87C>T
ENST00000366783.7:c.1073-87C>T	ENSP00000355747.3:n.1073-87C>T
ENST00000422240.6:c.1070-87C>T	ENSP00000403737.2:n.1070-87C>T
ENST00000471728.1:n.331-87C>T
ENST00000472139.2:c.641-87C>T	ENSP00000427806.1:n.641-87C>T
ENST00000626989.2:c.1172-87C>T	ENSP00000486498.1:n.1172-87C>T
NM_000447.2:c.1073-87C>T	NP_000438.2:n.1073-87C>T
NM_012486.2:c.1070-87C>T	NP_036618.2:n.1070-87C>T
XM_005273199.2:c.1073-87C>T	XP_005273256.1:n.1073-87C>T
XM_011544236.1:c.641-87C>T	XP_011542538.1:n.641-87C>T
XR_949149.1:n.1807-87C>T
XM_005273199.4:c.1073-87C>T	XP_005273256.1:n.1073-87C>T
XM_017001835.1:c.1073-87C>T	XP_016857324.1:n.1073-87C>T
XM_017001836.1:c.1070-87C>T	XP_016857325.1:n.1070-87C>T
XR_001737316.2:n.1477+2076C>T
XR_001737317.2:n.1477+2076C>T
XR_001737318.2:n.1788-87C>T
XR_001737319.1:n.2131-87C>T
XR_001737320.1:n.2128-87C>T
XR_001737321.1:n.1623-87C>T
XR_949149.2:n.1785-87C>T
XR_949150.3:n.2004-87C>T
NM_000447.3:c.1073-87C>T MANE Select	NP_000438.2:n.1073-87C>T
NM_012486.3:c.1070-87C>T	NP_036618.2:n.1070-87C>T