Canonical Allele Identifier: CA1225084558

Gene: PSEN2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226893892_226893897delinsAGGTGG , CM000663.2:g.226893892_226893897delinsAGGTGG	GRCh38
NC_000001.10:g.227081593_227081598delinsAGGTGG , CM000663.1:g.227081593_227081598delinsAGGTGG	GRCh37
NC_000001.9:g.225148216_225148221delinsAGGTGG	NCBI36
NG_007381.1:g.28321_28326delinsAGGTGG
NG_012825.2:g.1357_1362delinsAGGTGG
NG_007381.2:g.28709_28714delinsAGGTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.1073-115_1073-110delinsAGGTGG	ENSP00000355741.2:n.1073-115_1073-110delinsAGGTGG
ENST00000366782.6:c.1073-115_1073-110delinsAGGTGG	ENSP00000355746.2:n.1073-115_1073-110delinsAGGTGG
ENST00000366783.8:c.1073-115_1073-110delinsAGGTGG MANE Select	ENSP00000355747.3:n.1073-115_1073-110delinsAGGTGG
ENST00000471728.2:n.1711-115_1711-110delinsAGGTGG
ENST00000524196.6:c.1073-115_1073-110delinsAGGTGG	ENSP00000429036.2:n.1073-115_1073-110delinsAGGTGG
ENST00000626989.3:c.1073-115_1073-110delinsAGGTGG	ENSP00000486498.2:n.1073-115_1073-110delinsAGGTGG
ENST00000676467.1:c.*900-115_*900-110delinsAGGTGG	ENSP00000504294.1:n.*900-115_*900-110delinsAGGTGG
ENST00000676747.1:c.1070-115_1070-110delinsAGGTGG	ENSP00000503244.1:n.1070-115_1070-110delinsAGGTGG
ENST00000676884.1:c.1073-115_1073-110delinsAGGTGG	ENSP00000503200.1:n.1073-115_1073-110delinsAGGTGG
ENST00000676888.1:c.*414-115_*414-110delinsAGGTGG	ENSP00000504483.1:n.*414-115_*414-110delinsAGGTGG
ENST00000676907.1:c.*652-115_*652-110delinsAGGTGG	ENSP00000504410.1:n.*652-115_*652-110delinsAGGTGG
ENST00000676945.1:c.1073-115_1073-110delinsAGGTGG	ENSP00000504433.1:n.1073-115_1073-110delinsAGGTGG
ENST00000677065.1:n.1634-115_1634-110delinsAGGTGG
ENST00000677414.1:c.1073-115_1073-110delinsAGGTGG	ENSP00000503116.1:n.1073-115_1073-110delinsAGGTGG
ENST00000677529.1:n.2803-115_2803-110delinsAGGTGG
ENST00000677596.1:c.*1295-115_*1295-110delinsAGGTGG	ENSP00000503618.1:n.*1295-115_*1295-110delinsAGGTGG
ENST00000677599.1:c.1073-115_1073-110delinsAGGTGG	ENSP00000503673.1:n.1073-115_1073-110delinsAGGTGG
ENST00000677748.1:n.3328-115_3328-110delinsAGGTGG
ENST00000677880.1:c.638-115_638-110delinsAGGTGG	ENSP00000503121.1:n.638-115_638-110delinsAGGTGG
ENST00000678021.1:c.*696-115_*696-110delinsAGGTGG	ENSP00000504674.1:n.*696-115_*696-110delinsAGGTGG
ENST00000678233.1:c.1073-115_1073-110delinsAGGTGG	ENSP00000504728.1:n.1073-115_1073-110delinsAGGTGG
ENST00000678320.1:c.974-115_974-110delinsAGGTGG	ENSP00000503680.1:n.974-115_974-110delinsAGGTGG
ENST00000678655.1:c.974-115_974-110delinsAGGTGG	ENSP00000504230.1:n.974-115_974-110delinsAGGTGG
ENST00000678706.1:c.*450-115_*450-110delinsAGGTGG	ENSP00000503659.1:n.*450-115_*450-110delinsAGGTGG
ENST00000678776.1:c.*1210-115_*1210-110delinsAGGTGG	ENSP00000504624.1:n.*1210-115_*1210-110delinsAGGTGG
ENST00000678784.1:c.1072+2048_1072+2053delinsAGGTGG	ENSP00000504652.1:n.1072+2048_1072+2053delinsAGGTGG
ENST00000678820.1:c.971-115_971-110delinsAGGTGG	ENSP00000504138.1:n.971-115_971-110delinsAGGTGG
ENST00000678835.1:c.*756+2048_*756+2053delinsAGGTGG	ENSP00000504343.1:n.*756+2048_*756+2053delinsAGGTGG
ENST00000679088.1:c.1073-115_1073-110delinsAGGTGG	ENSP00000504727.1:n.1073-115_1073-110delinsAGGTGG
ENST00000679098.1:c.1073-115_1073-110delinsAGGTGG	ENSP00000504303.1:n.1073-115_1073-110delinsAGGTGG
ENST00000366782.5:c.1172-115_1172-110delinsAGGTGG	ENSP00000355746.1:n.1172-115_1172-110delinsAGGTGG
ENST00000366783.7:c.1073-115_1073-110delinsAGGTGG	ENSP00000355747.3:n.1073-115_1073-110delinsAGGTGG
ENST00000422240.6:c.1070-115_1070-110delinsAGGTGG	ENSP00000403737.2:n.1070-115_1070-110delinsAGGTGG
ENST00000471728.1:n.331-115_331-110delinsAGGTGG
ENST00000472139.2:c.641-115_641-110delinsAGGTGG	ENSP00000427806.1:n.641-115_641-110delinsAGGTGG
ENST00000626989.2:c.1172-115_1172-110delinsAGGTGG	ENSP00000486498.1:n.1172-115_1172-110delinsAGGTGG
NM_000447.2:c.1073-115_1073-110delinsAGGTGG	NP_000438.2:n.1073-115_1073-110delinsAGGTGG
NM_012486.2:c.1070-115_1070-110delinsAGGTGG	NP_036618.2:n.1070-115_1070-110delinsAGGTGG
XM_005273199.2:c.1073-115_1073-110delinsAGGTGG	XP_005273256.1:n.1073-115_1073-110delinsAGGTGG
XM_011544236.1:c.641-115_641-110delinsAGGTGG	XP_011542538.1:n.641-115_641-110delinsAGGTGG
XR_949149.1:n.1807-115_1807-110delinsAGGTGG
XM_005273199.4:c.1073-115_1073-110delinsAGGTGG	XP_005273256.1:n.1073-115_1073-110delinsAGGTGG
XM_017001835.1:c.1073-115_1073-110delinsAGGTGG	XP_016857324.1:n.1073-115_1073-110delinsAGGTGG
XM_017001836.1:c.1070-115_1070-110delinsAGGTGG	XP_016857325.1:n.1070-115_1070-110delinsAGGTGG
XR_001737316.2:n.1477+2048_1477+2053delinsAGGTGG
XR_001737317.2:n.1477+2048_1477+2053delinsAGGTGG
XR_001737318.2:n.1788-115_1788-110delinsAGGTGG
XR_001737319.1:n.2131-115_2131-110delinsAGGTGG
XR_001737320.1:n.2128-115_2128-110delinsAGGTGG
XR_001737321.1:n.1623-115_1623-110delinsAGGTGG
XR_949149.2:n.1785-115_1785-110delinsAGGTGG
XR_949150.3:n.2004-115_2004-110delinsAGGTGG
NM_000447.3:c.1073-115_1073-110delinsAGGTGG MANE Select	NP_000438.2:n.1073-115_1073-110delinsAGGTGG
NM_012486.3:c.1070-115_1070-110delinsAGGTGG	NP_036618.2:n.1070-115_1070-110delinsAGGTGG