Canonical Allele Identifier: CA2650788606

Gene: PSEN2

Linked Data

• gnomAD v4: 1-226896059-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226896059C>A , CM000663.2:g.226896059C>A	GRCh38
NC_000001.10:g.227083760C>A , CM000663.1:g.227083760C>A	GRCh37
NC_000001.9:g.225150383C>A	NCBI36
NG_007381.1:g.30488C>A
NG_012825.2:g.3524C>A
NG_007381.2:g.30876C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.*480C>A	ENSP00000355741.2:n.*480C>A
ENST00000366782.6:c.*480C>A	ENSP00000355746.2:n.*480C>A
ENST00000366783.8:c.*480C>A MANE Select	ENSP00000355747.3:n.*480C>A
ENST00000471728.2:n.2465C>A
ENST00000524196.6:c.*480C>A	ENSP00000429036.2:n.*480C>A
ENST00000626989.3:c.*480C>A	ENSP00000486498.2:n.*480C>A
ENST00000676467.1:c.*1654C>A	ENSP00000504294.1:n.*1654C>A
ENST00000676747.1:c.1189-1661C>A	ENSP00000503244.1:n.1189-1661C>A
ENST00000676884.1:c.*480C>A	ENSP00000503200.1:n.*480C>A
ENST00000676888.1:c.*1168C>A	ENSP00000504483.1:n.*1168C>A
ENST00000676907.1:c.*1406C>A	ENSP00000504410.1:n.*1406C>A
ENST00000676945.1:c.1191+1934C>A	ENSP00000504433.1:n.1191+1934C>A
ENST00000677065.1:n.2388C>A
ENST00000677414.1:c.*480C>A	ENSP00000503116.1:n.*480C>A
ENST00000677529.1:n.3557C>A
ENST00000677596.1:c.*2049C>A	ENSP00000503618.1:n.*2049C>A
ENST00000677599.1:c.1191+1934C>A	ENSP00000503673.1:n.1191+1934C>A
ENST00000677748.1:n.4082C>A
ENST00000677880.1:c.*480C>A	ENSP00000503121.1:n.*480C>A
ENST00000678021.1:c.*1450C>A	ENSP00000504674.1:n.*1450C>A
ENST00000678233.1:c.*8+472C>A	ENSP00000504728.1:n.*8+472C>A
ENST00000678320.1:c.*480C>A	ENSP00000503680.1:n.*480C>A
ENST00000678655.1:c.1093-1661C>A	ENSP00000504230.1:n.1093-1661C>A
ENST00000678706.1:c.*1204C>A	ENSP00000503659.1:n.*1204C>A
ENST00000678776.1:c.*1964C>A	ENSP00000504624.1:n.*1964C>A
ENST00000678784.1:c.1073-1661C>A	ENSP00000504652.1:n.1073-1661C>A
ENST00000678820.1:c.1090-1661C>A	ENSP00000504138.1:n.1090-1661C>A
ENST00000678835.1:c.*757-1661C>A	ENSP00000504343.1:n.*757-1661C>A
ENST00000679088.1:c.*480C>A	ENSP00000504727.1:n.*480C>A
ENST00000679098.1:c.*8+472C>A	ENSP00000504303.1:n.*8+472C>A
ENST00000366782.5:c.*480C>A	ENSP00000355746.1:n.*480C>A
ENST00000366783.7:c.*480C>A	ENSP00000355747.3:n.*480C>A
ENST00000626989.2:c.1926C>A	ENSP00000486498.1:n.1926C>A
NM_000447.2:c.*480C>A	NP_000438.2:n.*480C>A
NM_012486.2:c.*480C>A	NP_036618.2:n.*480C>A
XM_005273199.2:c.*480C>A	XP_005273256.1:n.*480C>A
XM_011544236.1:c.*480C>A	XP_011542538.1:n.*480C>A
XM_005273199.4:c.*480C>A	XP_005273256.1:n.*480C>A
XM_017001835.1:c.*480C>A	XP_016857324.1:n.*480C>A
XM_017001836.1:c.*480C>A	XP_016857325.1:n.*480C>A
XR_001737316.2:n.1478-1661C>A
XR_001737317.2:n.1478-1661C>A
XR_001737318.2:n.2542C>A
XR_001737319.1:n.2885C>A
XR_001737320.1:n.2882C>A
XR_001737321.1:n.2377C>A
XR_949149.2:n.2539C>A
XR_949150.3:n.2758C>A
NM_000447.3:c.*480C>A MANE Select	NP_000438.2:n.*480C>A
NM_012486.3:c.*480C>A	NP_036618.2:n.*480C>A