Canonical Allele Identifier: CA529172945

Gene: PSEN2

Linked Data

• dbSNP Id: rs1289418102
• gnomAD v2: 1-227081705-CAG-C
• gnomAD v3: 1-226894004-CAG-C
• gnomAD v4: 1-226894004-CAG-C
• MyVariant Identifiers: chr1:g.227081706_227081707del (hg19) ; chr1:g.226894005_226894006del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226894005_226894006del , CM000663.2:g.226894005_226894006del	GRCh38
NC_000001.10:g.227081706_227081707del , CM000663.1:g.227081706_227081707del	GRCh37
NC_000001.9:g.225148329_225148330del	NCBI36
NG_007381.1:g.28434_28435del
NG_012825.2:g.1470_1471del
NG_007381.2:g.28822_28823del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.1073-2_1073-1del	ENSP00000355741.2:n.1073-2_1073-1del
ENST00000366782.6:c.1073-2_1073-1del	ENSP00000355746.2:n.1073-2_1073-1del
ENST00000366783.8:c.1073-2_1073-1del MANE Select	ENSP00000355747.3:n.1073-2_1073-1del
ENST00000471728.2:n.1711-2_1711-1del
ENST00000524196.6:c.1073-2_1073-1del	ENSP00000429036.2:n.1073-2_1073-1del
ENST00000626989.3:c.1073-2_1073-1del	ENSP00000486498.2:n.1073-2_1073-1del
ENST00000676467.1:c.*900-2_*900-1del	ENSP00000504294.1:n.*900-2_*900-1del
ENST00000676747.1:c.1070-2_1070-1del	ENSP00000503244.1:n.1070-2_1070-1del
ENST00000676884.1:c.1073-2_1073-1del	ENSP00000503200.1:n.1073-2_1073-1del
ENST00000676888.1:c.*414-2_*414-1del	ENSP00000504483.1:n.*414-2_*414-1del
ENST00000676907.1:c.*652-2_*652-1del	ENSP00000504410.1:n.*652-2_*652-1del
ENST00000676945.1:c.1073-2_1073-1del	ENSP00000504433.1:n.1073-2_1073-1del
ENST00000677065.1:n.1634-2_1634-1del
ENST00000677414.1:c.1073-2_1073-1del	ENSP00000503116.1:n.1073-2_1073-1del
ENST00000677529.1:n.2803-2_2803-1del
ENST00000677596.1:c.*1295-2_*1295-1del	ENSP00000503618.1:n.*1295-2_*1295-1del
ENST00000677599.1:c.1073-2_1073-1del	ENSP00000503673.1:n.1073-2_1073-1del
ENST00000677748.1:n.3328-2_3328-1del
ENST00000677880.1:c.638-2_638-1del	ENSP00000503121.1:n.638-2_638-1del
ENST00000678021.1:c.*696-2_*696-1del	ENSP00000504674.1:n.*696-2_*696-1del
ENST00000678233.1:c.1073-2_1073-1del	ENSP00000504728.1:n.1073-2_1073-1del
ENST00000678320.1:c.974-2_974-1del	ENSP00000503680.1:n.974-2_974-1del
ENST00000678655.1:c.974-2_974-1del	ENSP00000504230.1:n.974-2_974-1del
ENST00000678706.1:c.*450-2_*450-1del	ENSP00000503659.1:n.*450-2_*450-1del
ENST00000678776.1:c.*1210-2_*1210-1del	ENSP00000504624.1:n.*1210-2_*1210-1del
ENST00000678784.1:c.1072+2161_1072+2162del	ENSP00000504652.1:n.1072+2161_1072+2162del
ENST00000678820.1:c.971-2_971-1del	ENSP00000504138.1:n.971-2_971-1del
ENST00000678835.1:c.*756+2161_*756+2162del	ENSP00000504343.1:n.*756+2161_*756+2162del
ENST00000679088.1:c.1073-2_1073-1del	ENSP00000504727.1:n.1073-2_1073-1del
ENST00000679098.1:c.1073-2_1073-1del	ENSP00000504303.1:n.1073-2_1073-1del
ENST00000366782.5:c.1172-2_1172-1del	ENSP00000355746.1:n.1172-2_1172-1del
ENST00000366783.7:c.1073-2_1073-1del	ENSP00000355747.3:n.1073-2_1073-1del
ENST00000422240.6:c.1070-2_1070-1del	ENSP00000403737.2:n.1070-2_1070-1del
ENST00000471728.1:n.331-2_331-1del
ENST00000472139.2:c.641-2_641-1del	ENSP00000427806.1:n.641-2_641-1del
ENST00000626989.2:c.1172-2_1172-1del	ENSP00000486498.1:n.1172-2_1172-1del
NM_000447.2:c.1073-2_1073-1del	NP_000438.2:n.1073-2_1073-1del
NM_012486.2:c.1070-2_1070-1del	NP_036618.2:n.1070-2_1070-1del
XM_005273199.2:c.1073-2_1073-1del	XP_005273256.1:n.1073-2_1073-1del
XM_011544236.1:c.641-2_641-1del	XP_011542538.1:n.641-2_641-1del
XR_949149.1:n.1807-2_1807-1del
XM_005273199.4:c.1073-2_1073-1del	XP_005273256.1:n.1073-2_1073-1del
XM_017001835.1:c.1073-2_1073-1del	XP_016857324.1:n.1073-2_1073-1del
XM_017001836.1:c.1070-2_1070-1del	XP_016857325.1:n.1070-2_1070-1del
XR_001737316.2:n.1477+2161_1477+2162del
XR_001737317.2:n.1477+2161_1477+2162del
XR_001737318.2:n.1788-2_1788-1del
XR_001737319.1:n.2131-2_2131-1del
XR_001737320.1:n.2128-2_2128-1del
XR_001737321.1:n.1623-2_1623-1del
XR_949149.2:n.1785-2_1785-1del
XR_949150.3:n.2004-2_2004-1del
NM_000447.3:c.1073-2_1073-1del MANE Select	NP_000438.2:n.1073-2_1073-1del
NM_012486.3:c.1070-2_1070-1del	NP_036618.2:n.1070-2_1070-1del