Canonical Allele Identifier: CA2650788264

Gene: PSEN2

Linked Data

• gnomAD v4: 1-226895682-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226895684del , CM000663.2:g.226895684del	GRCh38
NC_000001.10:g.227083385del , CM000663.1:g.227083385del	GRCh37
NC_000001.9:g.225150008del	NCBI36
NG_007381.1:g.30113del
NG_012825.2:g.3149del
NG_007381.2:g.30501del

Transcript Alleles

HGVS	Amino-acid change
ENST00000366779.6:c.*105del	ENSP00000355741.2:n.*105del
ENST00000366782.6:c.*105del	ENSP00000355746.2:n.*105del
ENST00000366783.8:c.*105del MANE Select	ENSP00000355747.3:n.*105del
ENST00000471728.2:n.2090del
ENST00000524196.6:c.*105del	ENSP00000429036.2:n.*105del
ENST00000626989.3:c.*105del	ENSP00000486498.2:n.*105del
ENST00000676467.1:c.*1279del	ENSP00000504294.1:n.*1279del
ENST00000676747.1:c.1188+1559del	ENSP00000503244.1:n.1188+1559del
ENST00000676884.1:c.*105del	ENSP00000503200.1:n.*105del
ENST00000676888.1:c.*793del	ENSP00000504483.1:n.*793del
ENST00000676907.1:c.*1031del	ENSP00000504410.1:n.*1031del
ENST00000676945.1:c.1191+1559del	ENSP00000504433.1:n.1191+1559del
ENST00000677065.1:n.2013del
ENST00000677414.1:c.*105del	ENSP00000503116.1:n.*105del
ENST00000677529.1:n.3182del
ENST00000677596.1:c.*1674del	ENSP00000503618.1:n.*1674del
ENST00000677599.1:c.1191+1559del	ENSP00000503673.1:n.1191+1559del
ENST00000677748.1:n.3707del
ENST00000677880.1:c.*105del	ENSP00000503121.1:n.*105del
ENST00000678021.1:c.*1075del	ENSP00000504674.1:n.*1075del
ENST00000678233.1:c.*8+97del	ENSP00000504728.1:n.*8+97del
ENST00000678320.1:c.*105del	ENSP00000503680.1:n.*105del
ENST00000678655.1:c.1092+1559del	ENSP00000504230.1:n.1092+1559del
ENST00000678706.1:c.*829del	ENSP00000503659.1:n.*829del
ENST00000678776.1:c.*1589del	ENSP00000504624.1:n.*1589del
ENST00000678784.1:c.1073-2036del	ENSP00000504652.1:n.1073-2036del
ENST00000678820.1:c.1089+1559del	ENSP00000504138.1:n.1089+1559del
ENST00000678835.1:c.*757-2036del	ENSP00000504343.1:n.*757-2036del
ENST00000679088.1:c.*105del	ENSP00000504727.1:n.*105del
ENST00000679098.1:c.*8+97del	ENSP00000504303.1:n.*8+97del
ENST00000366782.5:c.*105del	ENSP00000355746.1:n.*105del
ENST00000366783.7:c.*105del	ENSP00000355747.3:n.*105del
ENST00000422240.6:c.*105del	ENSP00000403737.2:n.*105del
ENST00000472139.2:c.*105del	ENSP00000427806.1:n.*105del
ENST00000626989.2:c.1551del	ENSP00000486498.1:n.1551del
NM_000447.2:c.*105del	NP_000438.2:n.*105del
NM_012486.2:c.*105del	NP_036618.2:n.*105del
XM_005273199.2:c.*105del	XP_005273256.1:n.*105del
XM_011544236.1:c.*105del	XP_011542538.1:n.*105del
XM_005273199.4:c.*105del	XP_005273256.1:n.*105del
XM_017001835.1:c.*105del	XP_016857324.1:n.*105del
XM_017001836.1:c.*105del	XP_016857325.1:n.*105del
XR_001737316.2:n.1478-2036del
XR_001737317.2:n.1478-2036del
XR_001737318.2:n.2167del
XR_001737319.1:n.2510del
XR_001737320.1:n.2507del
XR_001737321.1:n.2002del
XR_949149.2:n.2164del
XR_949150.3:n.2383del
NM_000447.3:c.*105del MANE Select	NP_000438.2:n.*105del
NM_012486.3:c.*105del	NP_036618.2:n.*105del