Canonical Allele Identifier: CA2747996994

Gene: PSEN2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226895692_226895693insTGGC , CM000663.2:g.226895692_226895693insTGGC	GRCh38
NC_000001.10:g.227083393_227083394insTGGC , CM000663.1:g.227083393_227083394insTGGC	GRCh37
NC_000001.9:g.225150016_225150017insTGGC	NCBI36
NG_007381.1:g.30121_30122insTGGC
NG_012825.2:g.3157_3158insTGGC
NG_007381.2:g.30509_30510insTGGC

Transcript Alleles

HGVS	Amino-acid change
ENST00000366779.6:c.*113_*114insTGGC	ENSP00000355741.2:n.*113_*114insTGGC
ENST00000366782.6:c.*113_*114insTGGC	ENSP00000355746.2:n.*113_*114insTGGC
ENST00000366783.8:c.*113_*114insTGGC MANE Select	ENSP00000355747.3:n.*113_*114insTGGC
ENST00000471728.2:n.2098_2099insTGGC
ENST00000524196.6:c.*113_*114insTGGC	ENSP00000429036.2:n.*113_*114insTGGC
ENST00000626989.3:c.*113_*114insTGGC	ENSP00000486498.2:n.*113_*114insTGGC
ENST00000676467.1:c.*1287_*1288insTGGC	ENSP00000504294.1:n.*1287_*1288insTGGC
ENST00000676747.1:c.1188+1567_1188+1568insTGGC	ENSP00000503244.1:n.1188+1567_1188+1568insTGGC
ENST00000676884.1:c.*113_*114insTGGC	ENSP00000503200.1:n.*113_*114insTGGC
ENST00000676888.1:c.*801_*802insTGGC	ENSP00000504483.1:n.*801_*802insTGGC
ENST00000676907.1:c.*1039_*1040insTGGC	ENSP00000504410.1:n.*1039_*1040insTGGC
ENST00000676945.1:c.1191+1567_1191+1568insTGGC	ENSP00000504433.1:n.1191+1567_1191+1568insTGGC
ENST00000677065.1:n.2021_2022insTGGC
ENST00000677414.1:c.*113_*114insTGGC	ENSP00000503116.1:n.*113_*114insTGGC
ENST00000677529.1:n.3190_3191insTGGC
ENST00000677596.1:c.*1682_*1683insTGGC	ENSP00000503618.1:n.*1682_*1683insTGGC
ENST00000677599.1:c.1191+1567_1191+1568insTGGC	ENSP00000503673.1:n.1191+1567_1191+1568insTGGC
ENST00000677748.1:n.3715_3716insTGGC
ENST00000677880.1:c.*113_*114insTGGC	ENSP00000503121.1:n.*113_*114insTGGC
ENST00000678021.1:c.*1083_*1084insTGGC	ENSP00000504674.1:n.*1083_*1084insTGGC
ENST00000678233.1:c.*8+105_*8+106insTGGC	ENSP00000504728.1:n.*8+105_*8+106insTGGC
ENST00000678320.1:c.*113_*114insTGGC	ENSP00000503680.1:n.*113_*114insTGGC
ENST00000678655.1:c.1092+1567_1092+1568insTGGC	ENSP00000504230.1:n.1092+1567_1092+1568insTGGC
ENST00000678706.1:c.*837_*838insTGGC	ENSP00000503659.1:n.*837_*838insTGGC
ENST00000678776.1:c.*1597_*1598insTGGC	ENSP00000504624.1:n.*1597_*1598insTGGC
ENST00000678784.1:c.1073-2028_1073-2027insTGGC	ENSP00000504652.1:n.1073-2028_1073-2027insTGGC
ENST00000678820.1:c.1089+1567_1089+1568insTGGC	ENSP00000504138.1:n.1089+1567_1089+1568insTGGC
ENST00000678835.1:c.*757-2028_*757-2027insTGGC	ENSP00000504343.1:n.*757-2028_*757-2027insTGGC
ENST00000679088.1:c.*113_*114insTGGC	ENSP00000504727.1:n.*113_*114insTGGC
ENST00000679098.1:c.*8+105_*8+106insTGGC	ENSP00000504303.1:n.*8+105_*8+106insTGGC
ENST00000366782.5:c.*113_*114insTGGC	ENSP00000355746.1:n.*113_*114insTGGC
ENST00000366783.7:c.*113_*114insTGGC	ENSP00000355747.3:n.*113_*114insTGGC
ENST00000422240.6:c.*113_*114insTGGC	ENSP00000403737.2:n.*113_*114insTGGC
ENST00000626989.2:c.1559_1560insTGGC	ENSP00000486498.1:n.1559_1560insTGGC
NM_000447.2:c.*113_*114insTGGC	NP_000438.2:n.*113_*114insTGGC
NM_012486.2:c.*113_*114insTGGC	NP_036618.2:n.*113_*114insTGGC
XM_005273199.2:c.*113_*114insTGGC	XP_005273256.1:n.*113_*114insTGGC
XM_011544236.1:c.*113_*114insTGGC	XP_011542538.1:n.*113_*114insTGGC
XM_005273199.4:c.*113_*114insTGGC	XP_005273256.1:n.*113_*114insTGGC
XM_017001835.1:c.*113_*114insTGGC	XP_016857324.1:n.*113_*114insTGGC
XM_017001836.1:c.*113_*114insTGGC	XP_016857325.1:n.*113_*114insTGGC
XR_001737316.2:n.1478-2028_1478-2027insTGGC
XR_001737317.2:n.1478-2028_1478-2027insTGGC
XR_001737318.2:n.2175_2176insTGGC
XR_001737319.1:n.2518_2519insTGGC
XR_001737320.1:n.2515_2516insTGGC
XR_001737321.1:n.2010_2011insTGGC
XR_949149.2:n.2172_2173insTGGC
XR_949150.3:n.2391_2392insTGGC
NM_000447.3:c.*113_*114insTGGC MANE Select	NP_000438.2:n.*113_*114insTGGC
NM_012486.3:c.*113_*114insTGGC	NP_036618.2:n.*113_*114insTGGC