Canonical Allele Identifier: CA2650788309

Gene: PSEN2

Linked Data

• gnomAD v4: 1-226895740-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226895742del , CM000663.2:g.226895742del	GRCh38
NC_000001.10:g.227083443del , CM000663.1:g.227083443del	GRCh37
NC_000001.9:g.225150066del	NCBI36
NG_007381.1:g.30171del
NG_012825.2:g.3207del
NG_007381.2:g.30559del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.*163del	ENSP00000355741.2:n.*163del
ENST00000366782.6:c.*163del	ENSP00000355746.2:n.*163del
ENST00000366783.8:c.*163del MANE Select	ENSP00000355747.3:n.*163del
ENST00000471728.2:n.2148del
ENST00000524196.6:c.*163del	ENSP00000429036.2:n.*163del
ENST00000626989.3:c.*163del	ENSP00000486498.2:n.*163del
ENST00000676467.1:c.*1337del	ENSP00000504294.1:n.*1337del
ENST00000676747.1:c.1188+1617del	ENSP00000503244.1:n.1188+1617del
ENST00000676884.1:c.*163del	ENSP00000503200.1:n.*163del
ENST00000676888.1:c.*851del	ENSP00000504483.1:n.*851del
ENST00000676907.1:c.*1089del	ENSP00000504410.1:n.*1089del
ENST00000676945.1:c.1191+1617del	ENSP00000504433.1:n.1191+1617del
ENST00000677065.1:n.2071del
ENST00000677414.1:c.*163del	ENSP00000503116.1:n.*163del
ENST00000677529.1:n.3240del
ENST00000677596.1:c.*1732del	ENSP00000503618.1:n.*1732del
ENST00000677599.1:c.1191+1617del	ENSP00000503673.1:n.1191+1617del
ENST00000677748.1:n.3765del
ENST00000677880.1:c.*163del	ENSP00000503121.1:n.*163del
ENST00000678021.1:c.*1133del	ENSP00000504674.1:n.*1133del
ENST00000678233.1:c.*8+155del	ENSP00000504728.1:n.*8+155del
ENST00000678320.1:c.*163del	ENSP00000503680.1:n.*163del
ENST00000678655.1:c.1092+1617del	ENSP00000504230.1:n.1092+1617del
ENST00000678706.1:c.*887del	ENSP00000503659.1:n.*887del
ENST00000678776.1:c.*1647del	ENSP00000504624.1:n.*1647del
ENST00000678784.1:c.1073-1978del	ENSP00000504652.1:n.1073-1978del
ENST00000678820.1:c.1089+1617del	ENSP00000504138.1:n.1089+1617del
ENST00000678835.1:c.*757-1978del	ENSP00000504343.1:n.*757-1978del
ENST00000679088.1:c.*163del	ENSP00000504727.1:n.*163del
ENST00000679098.1:c.*8+155del	ENSP00000504303.1:n.*8+155del
ENST00000366782.5:c.*163del	ENSP00000355746.1:n.*163del
ENST00000366783.7:c.*163del	ENSP00000355747.3:n.*163del
ENST00000422240.6:c.*163del	ENSP00000403737.2:n.*163del
ENST00000626989.2:c.1609del	ENSP00000486498.1:n.1609del
NM_000447.2:c.*163del	NP_000438.2:n.*163del
NM_012486.2:c.*163del	NP_036618.2:n.*163del
XM_005273199.2:c.*163del	XP_005273256.1:n.*163del
XM_011544236.1:c.*163del	XP_011542538.1:n.*163del
XM_005273199.4:c.*163del	XP_005273256.1:n.*163del
XM_017001835.1:c.*163del	XP_016857324.1:n.*163del
XM_017001836.1:c.*163del	XP_016857325.1:n.*163del
XR_001737316.2:n.1478-1978del
XR_001737317.2:n.1478-1978del
XR_001737318.2:n.2225del
XR_001737319.1:n.2568del
XR_001737320.1:n.2565del
XR_001737321.1:n.2060del
XR_949149.2:n.2222del
XR_949150.3:n.2441del
NM_000447.3:c.*163del MANE Select	NP_000438.2:n.*163del
NM_012486.3:c.*163del	NP_036618.2:n.*163del