Canonical Allele Identifier: CA2505391495

Gene: PSEN2

Linked Data

• gnomAD v4: 1-226896047-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226896047G>A , CM000663.2:g.226896047G>A	GRCh38
NC_000001.10:g.227083748G>A , CM000663.1:g.227083748G>A	GRCh37
NC_000001.9:g.225150371G>A	NCBI36
NG_007381.1:g.30476G>A
NG_012825.2:g.3512G>A
NG_007381.2:g.30864G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.*468G>A	ENSP00000355741.2:n.*468G>A
ENST00000366782.6:c.*468G>A	ENSP00000355746.2:n.*468G>A
ENST00000366783.8:c.*468G>A MANE Select	ENSP00000355747.3:n.*468G>A
ENST00000471728.2:n.2453G>A
ENST00000524196.6:c.*468G>A	ENSP00000429036.2:n.*468G>A
ENST00000626989.3:c.*468G>A	ENSP00000486498.2:n.*468G>A
ENST00000676467.1:c.*1642G>A	ENSP00000504294.1:n.*1642G>A
ENST00000676747.1:c.1189-1673G>A	ENSP00000503244.1:n.1189-1673G>A
ENST00000676884.1:c.*468G>A	ENSP00000503200.1:n.*468G>A
ENST00000676888.1:c.*1156G>A	ENSP00000504483.1:n.*1156G>A
ENST00000676907.1:c.*1394G>A	ENSP00000504410.1:n.*1394G>A
ENST00000676945.1:c.1191+1922G>A	ENSP00000504433.1:n.1191+1922G>A
ENST00000677065.1:n.2376G>A
ENST00000677414.1:c.*468G>A	ENSP00000503116.1:n.*468G>A
ENST00000677529.1:n.3545G>A
ENST00000677596.1:c.*2037G>A	ENSP00000503618.1:n.*2037G>A
ENST00000677599.1:c.1191+1922G>A	ENSP00000503673.1:n.1191+1922G>A
ENST00000677748.1:n.4070G>A
ENST00000677880.1:c.*468G>A	ENSP00000503121.1:n.*468G>A
ENST00000678021.1:c.*1438G>A	ENSP00000504674.1:n.*1438G>A
ENST00000678233.1:c.*8+460G>A	ENSP00000504728.1:n.*8+460G>A
ENST00000678320.1:c.*468G>A	ENSP00000503680.1:n.*468G>A
ENST00000678655.1:c.1093-1673G>A	ENSP00000504230.1:n.1093-1673G>A
ENST00000678706.1:c.*1192G>A	ENSP00000503659.1:n.*1192G>A
ENST00000678776.1:c.*1952G>A	ENSP00000504624.1:n.*1952G>A
ENST00000678784.1:c.1073-1673G>A	ENSP00000504652.1:n.1073-1673G>A
ENST00000678820.1:c.1090-1673G>A	ENSP00000504138.1:n.1090-1673G>A
ENST00000678835.1:c.*757-1673G>A	ENSP00000504343.1:n.*757-1673G>A
ENST00000679088.1:c.*468G>A	ENSP00000504727.1:n.*468G>A
ENST00000679098.1:c.*8+460G>A	ENSP00000504303.1:n.*8+460G>A
ENST00000366782.5:c.*468G>A	ENSP00000355746.1:n.*468G>A
ENST00000366783.7:c.*468G>A	ENSP00000355747.3:n.*468G>A
ENST00000626989.2:c.1914G>A	ENSP00000486498.1:n.1914G>A
NM_000447.2:c.*468G>A	NP_000438.2:n.*468G>A
NM_012486.2:c.*468G>A	NP_036618.2:n.*468G>A
XM_005273199.2:c.*468G>A	XP_005273256.1:n.*468G>A
XM_011544236.1:c.*468G>A	XP_011542538.1:n.*468G>A
XM_005273199.4:c.*468G>A	XP_005273256.1:n.*468G>A
XM_017001835.1:c.*468G>A	XP_016857324.1:n.*468G>A
XM_017001836.1:c.*468G>A	XP_016857325.1:n.*468G>A
XR_001737316.2:n.1478-1673G>A
XR_001737317.2:n.1478-1673G>A
XR_001737318.2:n.2530G>A
XR_001737319.1:n.2873G>A
XR_001737320.1:n.2870G>A
XR_001737321.1:n.2365G>A
XR_949149.2:n.2527G>A
XR_949150.3:n.2746G>A
NM_000447.3:c.*468G>A MANE Select	NP_000438.2:n.*468G>A
NM_012486.3:c.*468G>A	NP_036618.2:n.*468G>A