Canonical Allele Identifier: CA2650788584

Gene: PSEN2

Linked Data

• gnomAD v4: 1-226896022-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226896022C>A , CM000663.2:g.226896022C>A	GRCh38
NC_000001.10:g.227083723C>A , CM000663.1:g.227083723C>A	GRCh37
NC_000001.9:g.225150346C>A	NCBI36
NG_007381.1:g.30451C>A
NG_012825.2:g.3487C>A
NG_007381.2:g.30839C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.*443C>A	ENSP00000355741.2:n.*443C>A
ENST00000366782.6:c.*443C>A	ENSP00000355746.2:n.*443C>A
ENST00000366783.8:c.*443C>A MANE Select	ENSP00000355747.3:n.*443C>A
ENST00000471728.2:n.2428C>A
ENST00000524196.6:c.*443C>A	ENSP00000429036.2:n.*443C>A
ENST00000626989.3:c.*443C>A	ENSP00000486498.2:n.*443C>A
ENST00000676467.1:c.*1617C>A	ENSP00000504294.1:n.*1617C>A
ENST00000676747.1:c.1189-1698C>A	ENSP00000503244.1:n.1189-1698C>A
ENST00000676884.1:c.*443C>A	ENSP00000503200.1:n.*443C>A
ENST00000676888.1:c.*1131C>A	ENSP00000504483.1:n.*1131C>A
ENST00000676907.1:c.*1369C>A	ENSP00000504410.1:n.*1369C>A
ENST00000676945.1:c.1191+1897C>A	ENSP00000504433.1:n.1191+1897C>A
ENST00000677065.1:n.2351C>A
ENST00000677414.1:c.*443C>A	ENSP00000503116.1:n.*443C>A
ENST00000677529.1:n.3520C>A
ENST00000677596.1:c.*2012C>A	ENSP00000503618.1:n.*2012C>A
ENST00000677599.1:c.1191+1897C>A	ENSP00000503673.1:n.1191+1897C>A
ENST00000677748.1:n.4045C>A
ENST00000677880.1:c.*443C>A	ENSP00000503121.1:n.*443C>A
ENST00000678021.1:c.*1413C>A	ENSP00000504674.1:n.*1413C>A
ENST00000678233.1:c.*8+435C>A	ENSP00000504728.1:n.*8+435C>A
ENST00000678320.1:c.*443C>A	ENSP00000503680.1:n.*443C>A
ENST00000678655.1:c.1093-1698C>A	ENSP00000504230.1:n.1093-1698C>A
ENST00000678706.1:c.*1167C>A	ENSP00000503659.1:n.*1167C>A
ENST00000678776.1:c.*1927C>A	ENSP00000504624.1:n.*1927C>A
ENST00000678784.1:c.1073-1698C>A	ENSP00000504652.1:n.1073-1698C>A
ENST00000678820.1:c.1090-1698C>A	ENSP00000504138.1:n.1090-1698C>A
ENST00000678835.1:c.*757-1698C>A	ENSP00000504343.1:n.*757-1698C>A
ENST00000679088.1:c.*443C>A	ENSP00000504727.1:n.*443C>A
ENST00000679098.1:c.*8+435C>A	ENSP00000504303.1:n.*8+435C>A
ENST00000366782.5:c.*443C>A	ENSP00000355746.1:n.*443C>A
ENST00000366783.7:c.*443C>A	ENSP00000355747.3:n.*443C>A
ENST00000626989.2:c.1889C>A	ENSP00000486498.1:n.1889C>A
NM_000447.2:c.*443C>A	NP_000438.2:n.*443C>A
NM_012486.2:c.*443C>A	NP_036618.2:n.*443C>A
XM_005273199.2:c.*443C>A	XP_005273256.1:n.*443C>A
XM_011544236.1:c.*443C>A	XP_011542538.1:n.*443C>A
XM_005273199.4:c.*443C>A	XP_005273256.1:n.*443C>A
XM_017001835.1:c.*443C>A	XP_016857324.1:n.*443C>A
XM_017001836.1:c.*443C>A	XP_016857325.1:n.*443C>A
XR_001737316.2:n.1478-1698C>A
XR_001737317.2:n.1478-1698C>A
XR_001737318.2:n.2505C>A
XR_001737319.1:n.2848C>A
XR_001737320.1:n.2845C>A
XR_001737321.1:n.2340C>A
XR_949149.2:n.2502C>A
XR_949150.3:n.2721C>A
NM_000447.3:c.*443C>A MANE Select	NP_000438.2:n.*443C>A
NM_012486.3:c.*443C>A	NP_036618.2:n.*443C>A