Canonical Allele Identifier: CA2650788559

Gene: PSEN2

Linked Data

• gnomAD v4: 1-226895970-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226895970A>G , CM000663.2:g.226895970A>G	GRCh38
NC_000001.10:g.227083671A>G , CM000663.1:g.227083671A>G	GRCh37
NC_000001.9:g.225150294A>G	NCBI36
NG_007381.1:g.30399A>G
NG_012825.2:g.3435A>G
NG_007381.2:g.30787A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.*391A>G	ENSP00000355741.2:n.*391A>G
ENST00000366782.6:c.*391A>G	ENSP00000355746.2:n.*391A>G
ENST00000366783.8:c.*391A>G MANE Select	ENSP00000355747.3:n.*391A>G
ENST00000471728.2:n.2376A>G
ENST00000524196.6:c.*391A>G	ENSP00000429036.2:n.*391A>G
ENST00000626989.3:c.*391A>G	ENSP00000486498.2:n.*391A>G
ENST00000676467.1:c.*1565A>G	ENSP00000504294.1:n.*1565A>G
ENST00000676747.1:c.1189-1750A>G	ENSP00000503244.1:n.1189-1750A>G
ENST00000676884.1:c.*391A>G	ENSP00000503200.1:n.*391A>G
ENST00000676888.1:c.*1079A>G	ENSP00000504483.1:n.*1079A>G
ENST00000676907.1:c.*1317A>G	ENSP00000504410.1:n.*1317A>G
ENST00000676945.1:c.1191+1845A>G	ENSP00000504433.1:n.1191+1845A>G
ENST00000677065.1:n.2299A>G
ENST00000677414.1:c.*391A>G	ENSP00000503116.1:n.*391A>G
ENST00000677529.1:n.3468A>G
ENST00000677596.1:c.*1960A>G	ENSP00000503618.1:n.*1960A>G
ENST00000677599.1:c.1191+1845A>G	ENSP00000503673.1:n.1191+1845A>G
ENST00000677748.1:n.3993A>G
ENST00000677880.1:c.*391A>G	ENSP00000503121.1:n.*391A>G
ENST00000678021.1:c.*1361A>G	ENSP00000504674.1:n.*1361A>G
ENST00000678233.1:c.*8+383A>G	ENSP00000504728.1:n.*8+383A>G
ENST00000678320.1:c.*391A>G	ENSP00000503680.1:n.*391A>G
ENST00000678655.1:c.1093-1750A>G	ENSP00000504230.1:n.1093-1750A>G
ENST00000678706.1:c.*1115A>G	ENSP00000503659.1:n.*1115A>G
ENST00000678776.1:c.*1875A>G	ENSP00000504624.1:n.*1875A>G
ENST00000678784.1:c.1073-1750A>G	ENSP00000504652.1:n.1073-1750A>G
ENST00000678820.1:c.1090-1750A>G	ENSP00000504138.1:n.1090-1750A>G
ENST00000678835.1:c.*757-1750A>G	ENSP00000504343.1:n.*757-1750A>G
ENST00000679088.1:c.*391A>G	ENSP00000504727.1:n.*391A>G
ENST00000679098.1:c.*8+383A>G	ENSP00000504303.1:n.*8+383A>G
ENST00000366782.5:c.*391A>G	ENSP00000355746.1:n.*391A>G
ENST00000366783.7:c.*391A>G	ENSP00000355747.3:n.*391A>G
ENST00000626989.2:c.1837A>G	ENSP00000486498.1:n.1837A>G
NM_000447.2:c.*391A>G	NP_000438.2:n.*391A>G
NM_012486.2:c.*391A>G	NP_036618.2:n.*391A>G
XM_005273199.2:c.*391A>G	XP_005273256.1:n.*391A>G
XM_011544236.1:c.*391A>G	XP_011542538.1:n.*391A>G
XM_005273199.4:c.*391A>G	XP_005273256.1:n.*391A>G
XM_017001835.1:c.*391A>G	XP_016857324.1:n.*391A>G
XM_017001836.1:c.*391A>G	XP_016857325.1:n.*391A>G
XR_001737316.2:n.1478-1750A>G
XR_001737317.2:n.1478-1750A>G
XR_001737318.2:n.2453A>G
XR_001737319.1:n.2796A>G
XR_001737320.1:n.2793A>G
XR_001737321.1:n.2288A>G
XR_949149.2:n.2450A>G
XR_949150.3:n.2669A>G
NM_000447.3:c.*391A>G MANE Select	NP_000438.2:n.*391A>G
NM_012486.3:c.*391A>G	NP_036618.2:n.*391A>G