Canonical Allele Identifier: CA2650788625

Gene: PSEN2

Linked Data

• gnomAD v4: 1-226896097-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226896097A>G , CM000663.2:g.226896097A>G	GRCh38
NC_000001.10:g.227083798A>G , CM000663.1:g.227083798A>G	GRCh37
NC_000001.9:g.225150421A>G	NCBI36
NG_007381.1:g.30526A>G
NG_012825.2:g.3562A>G
NG_007381.2:g.30914A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.*518A>G	ENSP00000355741.2:n.*518A>G
ENST00000366782.6:c.*518A>G	ENSP00000355746.2:n.*518A>G
ENST00000366783.8:c.*518A>G MANE Select	ENSP00000355747.3:n.*518A>G
ENST00000524196.6:c.*518A>G	ENSP00000429036.2:n.*518A>G
ENST00000676747.1:c.1189-1623A>G	ENSP00000503244.1:n.1189-1623A>G
ENST00000676884.1:c.*518A>G	ENSP00000503200.1:n.*518A>G
ENST00000676945.1:c.1191+1972A>G	ENSP00000504433.1:n.1191+1972A>G
ENST00000677599.1:c.1191+1972A>G	ENSP00000503673.1:n.1191+1972A>G
ENST00000678233.1:c.*8+510A>G	ENSP00000504728.1:n.*8+510A>G
ENST00000678655.1:c.1093-1623A>G	ENSP00000504230.1:n.1093-1623A>G
ENST00000678784.1:c.1073-1623A>G	ENSP00000504652.1:n.1073-1623A>G
ENST00000678820.1:c.1090-1623A>G	ENSP00000504138.1:n.1090-1623A>G
ENST00000678835.1:c.*757-1623A>G	ENSP00000504343.1:n.*757-1623A>G
ENST00000679098.1:c.*8+510A>G	ENSP00000504303.1:n.*8+510A>G
ENST00000366782.5:c.*518A>G	ENSP00000355746.1:n.*518A>G
ENST00000366783.7:c.*518A>G	ENSP00000355747.3:n.*518A>G
ENST00000626989.2:c.1964A>G	ENSP00000486498.1:n.1964A>G
NM_000447.2:c.*518A>G	NP_000438.2:n.*518A>G
NM_012486.2:c.*518A>G	NP_036618.2:n.*518A>G
XM_005273199.2:c.*518A>G	XP_005273256.1:n.*518A>G
XM_011544236.1:c.*518A>G	XP_011542538.1:n.*518A>G
XM_005273199.4:c.*518A>G	XP_005273256.1:n.*518A>G
XM_017001835.1:c.*518A>G	XP_016857324.1:n.*518A>G
XM_017001836.1:c.*518A>G	XP_016857325.1:n.*518A>G
XR_001737316.2:n.1478-1623A>G
XR_001737317.2:n.1478-1623A>G
XR_001737318.2:n.2580A>G
XR_001737319.1:n.2923A>G
XR_001737320.1:n.2920A>G
XR_001737321.1:n.2415A>G
XR_949149.2:n.2577A>G
XR_949150.3:n.2796A>G
NM_000447.3:c.*518A>G MANE Select	NP_000438.2:n.*518A>G
NM_012486.3:c.*518A>G	NP_036618.2:n.*518A>G