Canonical Allele Identifier: CA1225084623

Gene: PSEN2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226894004_226894006delinsCAG , CM000663.2:g.226894004_226894006delinsCAG	GRCh38
NC_000001.10:g.227081705_227081707delinsCAG , CM000663.1:g.227081705_227081707delinsCAG	GRCh37
NC_000001.9:g.225148328_225148330delinsCAG	NCBI36
NG_007381.1:g.28433_28435delinsCAG
NG_012825.2:g.1469_1471delinsCAG
NG_007381.2:g.28821_28823delinsCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.1073-3_1073-1delinsCAG	ENSP00000355741.2:n.1073-3_1073-1delinsCAG
ENST00000366782.6:c.1073-3_1073-1delinsCAG	ENSP00000355746.2:n.1073-3_1073-1delinsCAG
ENST00000366783.8:c.1073-3_1073-1delinsCAG MANE Select	ENSP00000355747.3:n.1073-3_1073-1delinsCAG
ENST00000471728.2:n.1711-3_1711-1delinsCAG
ENST00000524196.6:c.1073-3_1073-1delinsCAG	ENSP00000429036.2:n.1073-3_1073-1delinsCAG
ENST00000626989.3:c.1073-3_1073-1delinsCAG	ENSP00000486498.2:n.1073-3_1073-1delinsCAG
ENST00000676467.1:c.*900-3_*900-1delinsCAG	ENSP00000504294.1:n.*900-3_*900-1delinsCAG
ENST00000676747.1:c.1070-3_1070-1delinsCAG	ENSP00000503244.1:n.1070-3_1070-1delinsCAG
ENST00000676884.1:c.1073-3_1073-1delinsCAG	ENSP00000503200.1:n.1073-3_1073-1delinsCAG
ENST00000676888.1:c.*414-3_*414-1delinsCAG	ENSP00000504483.1:n.*414-3_*414-1delinsCAG
ENST00000676907.1:c.*652-3_*652-1delinsCAG	ENSP00000504410.1:n.*652-3_*652-1delinsCAG
ENST00000676945.1:c.1073-3_1073-1delinsCAG	ENSP00000504433.1:n.1073-3_1073-1delinsCAG
ENST00000677065.1:n.1634-3_1634-1delinsCAG
ENST00000677414.1:c.1073-3_1073-1delinsCAG	ENSP00000503116.1:n.1073-3_1073-1delinsCAG
ENST00000677529.1:n.2803-3_2803-1delinsCAG
ENST00000677596.1:c.*1295-3_*1295-1delinsCAG	ENSP00000503618.1:n.*1295-3_*1295-1delinsCAG
ENST00000677599.1:c.1073-3_1073-1delinsCAG	ENSP00000503673.1:n.1073-3_1073-1delinsCAG
ENST00000677748.1:n.3328-3_3328-1delinsCAG
ENST00000677880.1:c.638-3_638-1delinsCAG	ENSP00000503121.1:n.638-3_638-1delinsCAG
ENST00000678021.1:c.*696-3_*696-1delinsCAG	ENSP00000504674.1:n.*696-3_*696-1delinsCAG
ENST00000678233.1:c.1073-3_1073-1delinsCAG	ENSP00000504728.1:n.1073-3_1073-1delinsCAG
ENST00000678320.1:c.974-3_974-1delinsCAG	ENSP00000503680.1:n.974-3_974-1delinsCAG
ENST00000678655.1:c.974-3_974-1delinsCAG	ENSP00000504230.1:n.974-3_974-1delinsCAG
ENST00000678706.1:c.*450-3_*450-1delinsCAG	ENSP00000503659.1:n.*450-3_*450-1delinsCAG
ENST00000678776.1:c.*1210-3_*1210-1delinsCAG	ENSP00000504624.1:n.*1210-3_*1210-1delinsCAG
ENST00000678784.1:c.1072+2160_1072+2162delinsCAG	ENSP00000504652.1:n.1072+2160_1072+2162delinsCAG
ENST00000678820.1:c.971-3_971-1delinsCAG	ENSP00000504138.1:n.971-3_971-1delinsCAG
ENST00000678835.1:c.*756+2160_*756+2162delinsCAG	ENSP00000504343.1:n.*756+2160_*756+2162delinsCAG
ENST00000679088.1:c.1073-3_1073-1delinsCAG	ENSP00000504727.1:n.1073-3_1073-1delinsCAG
ENST00000679098.1:c.1073-3_1073-1delinsCAG	ENSP00000504303.1:n.1073-3_1073-1delinsCAG
ENST00000366782.5:c.1172-3_1172-1delinsCAG	ENSP00000355746.1:n.1172-3_1172-1delinsCAG
ENST00000366783.7:c.1073-3_1073-1delinsCAG	ENSP00000355747.3:n.1073-3_1073-1delinsCAG
ENST00000422240.6:c.1070-3_1070-1delinsCAG	ENSP00000403737.2:n.1070-3_1070-1delinsCAG
ENST00000471728.1:n.331-3_331-1delinsCAG
ENST00000472139.2:c.641-3_641-1delinsCAG	ENSP00000427806.1:n.641-3_641-1delinsCAG
ENST00000626989.2:c.1172-3_1172-1delinsCAG	ENSP00000486498.1:n.1172-3_1172-1delinsCAG
NM_000447.2:c.1073-3_1073-1delinsCAG	NP_000438.2:n.1073-3_1073-1delinsCAG
NM_012486.2:c.1070-3_1070-1delinsCAG	NP_036618.2:n.1070-3_1070-1delinsCAG
XM_005273199.2:c.1073-3_1073-1delinsCAG	XP_005273256.1:n.1073-3_1073-1delinsCAG
XM_011544236.1:c.641-3_641-1delinsCAG	XP_011542538.1:n.641-3_641-1delinsCAG
XR_949149.1:n.1807-3_1807-1delinsCAG
XM_005273199.4:c.1073-3_1073-1delinsCAG	XP_005273256.1:n.1073-3_1073-1delinsCAG
XM_017001835.1:c.1073-3_1073-1delinsCAG	XP_016857324.1:n.1073-3_1073-1delinsCAG
XM_017001836.1:c.1070-3_1070-1delinsCAG	XP_016857325.1:n.1070-3_1070-1delinsCAG
XR_001737316.2:n.1477+2160_1477+2162delinsCAG
XR_001737317.2:n.1477+2160_1477+2162delinsCAG
XR_001737318.2:n.1788-3_1788-1delinsCAG
XR_001737319.1:n.2131-3_2131-1delinsCAG
XR_001737320.1:n.2128-3_2128-1delinsCAG
XR_001737321.1:n.1623-3_1623-1delinsCAG
XR_949149.2:n.1785-3_1785-1delinsCAG
XR_949150.3:n.2004-3_2004-1delinsCAG
NM_000447.3:c.1073-3_1073-1delinsCAG MANE Select	NP_000438.2:n.1073-3_1073-1delinsCAG
NM_012486.3:c.1070-3_1070-1delinsCAG	NP_036618.2:n.1070-3_1070-1delinsCAG