Canonical Allele Identifier: CA1225084543

Gene: PSEN2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226893852_226893853delinsCT , CM000663.2:g.226893852_226893853delinsCT	GRCh38
NC_000001.10:g.227081553_227081554delinsCT , CM000663.1:g.227081553_227081554delinsCT	GRCh37
NC_000001.9:g.225148176_225148177delinsCT	NCBI36
NG_007381.1:g.28281_28282delinsCT
NG_012825.2:g.1317_1318delinsCT
NG_007381.2:g.28669_28670delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.1073-155_1073-154delinsCT	ENSP00000355741.2:n.1073-155_1073-154delinsCT
ENST00000366782.6:c.1073-155_1073-154delinsCT	ENSP00000355746.2:n.1073-155_1073-154delinsCT
ENST00000366783.8:c.1073-155_1073-154delinsCT MANE Select	ENSP00000355747.3:n.1073-155_1073-154delinsCT
ENST00000471728.2:n.1711-155_1711-154delinsCT
ENST00000524196.6:c.1073-155_1073-154delinsCT	ENSP00000429036.2:n.1073-155_1073-154delinsCT
ENST00000626989.3:c.1073-155_1073-154delinsCT	ENSP00000486498.2:n.1073-155_1073-154delinsCT
ENST00000676467.1:c.*900-155_*900-154delinsCT	ENSP00000504294.1:n.*900-155_*900-154delinsCT
ENST00000676747.1:c.1070-155_1070-154delinsCT	ENSP00000503244.1:n.1070-155_1070-154delinsCT
ENST00000676884.1:c.1073-155_1073-154delinsCT	ENSP00000503200.1:n.1073-155_1073-154delinsCT
ENST00000676888.1:c.*414-155_*414-154delinsCT	ENSP00000504483.1:n.*414-155_*414-154delinsCT
ENST00000676907.1:c.*652-155_*652-154delinsCT	ENSP00000504410.1:n.*652-155_*652-154delinsCT
ENST00000676945.1:c.1073-155_1073-154delinsCT	ENSP00000504433.1:n.1073-155_1073-154delinsCT
ENST00000677065.1:n.1634-155_1634-154delinsCT
ENST00000677414.1:c.1073-155_1073-154delinsCT	ENSP00000503116.1:n.1073-155_1073-154delinsCT
ENST00000677529.1:n.2803-155_2803-154delinsCT
ENST00000677596.1:c.*1295-155_*1295-154delinsCT	ENSP00000503618.1:n.*1295-155_*1295-154delinsCT
ENST00000677599.1:c.1073-155_1073-154delinsCT	ENSP00000503673.1:n.1073-155_1073-154delinsCT
ENST00000677748.1:n.3328-155_3328-154delinsCT
ENST00000677880.1:c.638-155_638-154delinsCT	ENSP00000503121.1:n.638-155_638-154delinsCT
ENST00000678021.1:c.*696-155_*696-154delinsCT	ENSP00000504674.1:n.*696-155_*696-154delinsCT
ENST00000678233.1:c.1073-155_1073-154delinsCT	ENSP00000504728.1:n.1073-155_1073-154delinsCT
ENST00000678320.1:c.974-155_974-154delinsCT	ENSP00000503680.1:n.974-155_974-154delinsCT
ENST00000678655.1:c.974-155_974-154delinsCT	ENSP00000504230.1:n.974-155_974-154delinsCT
ENST00000678706.1:c.*450-155_*450-154delinsCT	ENSP00000503659.1:n.*450-155_*450-154delinsCT
ENST00000678776.1:c.*1210-155_*1210-154delinsCT	ENSP00000504624.1:n.*1210-155_*1210-154delinsCT
ENST00000678784.1:c.1072+2008_1072+2009delinsCT	ENSP00000504652.1:n.1072+2008_1072+2009delinsCT
ENST00000678820.1:c.971-155_971-154delinsCT	ENSP00000504138.1:n.971-155_971-154delinsCT
ENST00000678835.1:c.*756+2008_*756+2009delinsCT	ENSP00000504343.1:n.*756+2008_*756+2009delinsCT
ENST00000679088.1:c.1073-155_1073-154delinsCT	ENSP00000504727.1:n.1073-155_1073-154delinsCT
ENST00000679098.1:c.1073-155_1073-154delinsCT	ENSP00000504303.1:n.1073-155_1073-154delinsCT
ENST00000366782.5:c.1172-155_1172-154delinsCT	ENSP00000355746.1:n.1172-155_1172-154delinsCT
ENST00000366783.7:c.1073-155_1073-154delinsCT	ENSP00000355747.3:n.1073-155_1073-154delinsCT
ENST00000422240.6:c.1070-155_1070-154delinsCT	ENSP00000403737.2:n.1070-155_1070-154delinsCT
ENST00000471728.1:n.331-155_331-154delinsCT
ENST00000472139.2:c.641-155_641-154delinsCT	ENSP00000427806.1:n.641-155_641-154delinsCT
ENST00000626989.2:c.1172-155_1172-154delinsCT	ENSP00000486498.1:n.1172-155_1172-154delinsCT
NM_000447.2:c.1073-155_1073-154delinsCT	NP_000438.2:n.1073-155_1073-154delinsCT
NM_012486.2:c.1070-155_1070-154delinsCT	NP_036618.2:n.1070-155_1070-154delinsCT
XM_005273199.2:c.1073-155_1073-154delinsCT	XP_005273256.1:n.1073-155_1073-154delinsCT
XM_011544236.1:c.641-155_641-154delinsCT	XP_011542538.1:n.641-155_641-154delinsCT
XR_949149.1:n.1807-155_1807-154delinsCT
XM_005273199.4:c.1073-155_1073-154delinsCT	XP_005273256.1:n.1073-155_1073-154delinsCT
XM_017001835.1:c.1073-155_1073-154delinsCT	XP_016857324.1:n.1073-155_1073-154delinsCT
XM_017001836.1:c.1070-155_1070-154delinsCT	XP_016857325.1:n.1070-155_1070-154delinsCT
XR_001737316.2:n.1477+2008_1477+2009delinsCT
XR_001737317.2:n.1477+2008_1477+2009delinsCT
XR_001737318.2:n.1788-155_1788-154delinsCT
XR_001737319.1:n.2131-155_2131-154delinsCT
XR_001737320.1:n.2128-155_2128-154delinsCT
XR_001737321.1:n.1623-155_1623-154delinsCT
XR_949149.2:n.1785-155_1785-154delinsCT
XR_949150.3:n.2004-155_2004-154delinsCT
NM_000447.3:c.1073-155_1073-154delinsCT MANE Select	NP_000438.2:n.1073-155_1073-154delinsCT
NM_012486.3:c.1070-155_1070-154delinsCT	NP_036618.2:n.1070-155_1070-154delinsCT