Canonical Allele Identifier: CA2650788482

Gene: PSEN2

Linked Data

• gnomAD v4: 1-226895896-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226895896G>T , CM000663.2:g.226895896G>T	GRCh38
NC_000001.10:g.227083597G>T , CM000663.1:g.227083597G>T	GRCh37
NC_000001.9:g.225150220G>T	NCBI36
NG_007381.1:g.30325G>T
NG_012825.2:g.3361G>T
NG_007381.2:g.30713G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.*317G>T	ENSP00000355741.2:n.*317G>T
ENST00000366782.6:c.*317G>T	ENSP00000355746.2:n.*317G>T
ENST00000366783.8:c.*317G>T MANE Select	ENSP00000355747.3:n.*317G>T
ENST00000471728.2:n.2302G>T
ENST00000524196.6:c.*317G>T	ENSP00000429036.2:n.*317G>T
ENST00000626989.3:c.*317G>T	ENSP00000486498.2:n.*317G>T
ENST00000676467.1:c.*1491G>T	ENSP00000504294.1:n.*1491G>T
ENST00000676747.1:c.1188+1771G>T	ENSP00000503244.1:n.1188+1771G>T
ENST00000676884.1:c.*317G>T	ENSP00000503200.1:n.*317G>T
ENST00000676888.1:c.*1005G>T	ENSP00000504483.1:n.*1005G>T
ENST00000676907.1:c.*1243G>T	ENSP00000504410.1:n.*1243G>T
ENST00000676945.1:c.1191+1771G>T	ENSP00000504433.1:n.1191+1771G>T
ENST00000677065.1:n.2225G>T
ENST00000677414.1:c.*317G>T	ENSP00000503116.1:n.*317G>T
ENST00000677529.1:n.3394G>T
ENST00000677596.1:c.*1886G>T	ENSP00000503618.1:n.*1886G>T
ENST00000677599.1:c.1191+1771G>T	ENSP00000503673.1:n.1191+1771G>T
ENST00000677748.1:n.3919G>T
ENST00000677880.1:c.*317G>T	ENSP00000503121.1:n.*317G>T
ENST00000678021.1:c.*1287G>T	ENSP00000504674.1:n.*1287G>T
ENST00000678233.1:c.*8+309G>T	ENSP00000504728.1:n.*8+309G>T
ENST00000678320.1:c.*317G>T	ENSP00000503680.1:n.*317G>T
ENST00000678655.1:c.1092+1771G>T	ENSP00000504230.1:n.1092+1771G>T
ENST00000678706.1:c.*1041G>T	ENSP00000503659.1:n.*1041G>T
ENST00000678776.1:c.*1801G>T	ENSP00000504624.1:n.*1801G>T
ENST00000678784.1:c.1073-1824G>T	ENSP00000504652.1:n.1073-1824G>T
ENST00000678820.1:c.1089+1771G>T	ENSP00000504138.1:n.1089+1771G>T
ENST00000678835.1:c.*757-1824G>T	ENSP00000504343.1:n.*757-1824G>T
ENST00000679088.1:c.*317G>T	ENSP00000504727.1:n.*317G>T
ENST00000679098.1:c.*8+309G>T	ENSP00000504303.1:n.*8+309G>T
ENST00000366782.5:c.*317G>T	ENSP00000355746.1:n.*317G>T
ENST00000366783.7:c.*317G>T	ENSP00000355747.3:n.*317G>T
ENST00000626989.2:c.1763G>T	ENSP00000486498.1:n.1763G>T
NM_000447.2:c.*317G>T	NP_000438.2:n.*317G>T
NM_012486.2:c.*317G>T	NP_036618.2:n.*317G>T
XM_005273199.2:c.*317G>T	XP_005273256.1:n.*317G>T
XM_011544236.1:c.*317G>T	XP_011542538.1:n.*317G>T
XM_005273199.4:c.*317G>T	XP_005273256.1:n.*317G>T
XM_017001835.1:c.*317G>T	XP_016857324.1:n.*317G>T
XM_017001836.1:c.*317G>T	XP_016857325.1:n.*317G>T
XR_001737316.2:n.1478-1824G>T
XR_001737317.2:n.1478-1824G>T
XR_001737318.2:n.2379G>T
XR_001737319.1:n.2722G>T
XR_001737320.1:n.2719G>T
XR_001737321.1:n.2214G>T
XR_949149.2:n.2376G>T
XR_949150.3:n.2595G>T
NM_000447.3:c.*317G>T MANE Select	NP_000438.2:n.*317G>T
NM_012486.3:c.*317G>T	NP_036618.2:n.*317G>T