Canonical Allele Identifier: CA345044762

Gene: PSEN2

Linked Data

• gnomAD v4: 1-226895449-T-G
• MyVariant Identifiers: chr1:g.227083150T>G (hg19) ; chr1:g.226895449T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226895449T>G , CM000663.2:g.226895449T>G	GRCh38
NC_000001.10:g.227083150T>G , CM000663.1:g.227083150T>G	GRCh37
NC_000001.9:g.225149773T>G	NCBI36
NG_007381.1:g.29878T>G
NG_012825.2:g.2914T>G
NG_007381.2:g.30266T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.1217T>G	ENSP00000355741.2:p.Leu406Arg
ENST00000366782.6:c.1217T>G	ENSP00000355746.2:p.Leu406Arg
ENST00000366783.8:c.1217T>G MANE Select	ENSP00000355747.3:p.Leu406Arg
ENST00000471728.2:n.1855T>G
ENST00000524196.6:c.1217T>G	ENSP00000429036.2:p.Leu406Arg
ENST00000626989.3:c.1217T>G	ENSP00000486498.2:p.Leu406Arg
ENST00000676467.1:c.*1044T>G	ENSP00000504294.1:n.*1044T>G
ENST00000676747.1:c.1188+1324T>G	ENSP00000503244.1:n.1188+1324T>G
ENST00000676884.1:c.1217T>G	ENSP00000503200.1:p.Leu406Arg
ENST00000676888.1:c.*558T>G	ENSP00000504483.1:n.*558T>G
ENST00000676907.1:c.*796T>G	ENSP00000504410.1:n.*796T>G
ENST00000676945.1:c.1191+1324T>G	ENSP00000504433.1:n.1191+1324T>G
ENST00000677065.1:n.1778T>G
ENST00000677414.1:c.1217T>G	ENSP00000503116.1:p.Leu406Arg
ENST00000677529.1:n.2947T>G
ENST00000677596.1:c.*1439T>G	ENSP00000503618.1:n.*1439T>G
ENST00000677599.1:c.1191+1324T>G	ENSP00000503673.1:n.1191+1324T>G
ENST00000677748.1:n.3472T>G
ENST00000677880.1:c.782T>G	ENSP00000503121.1:p.Leu261Arg
ENST00000678021.1:c.*840T>G	ENSP00000504674.1:n.*840T>G
ENST00000678233.1:c.1217T>G	ENSP00000504728.1:p.Leu406Arg
ENST00000678320.1:c.1118T>G	ENSP00000503680.1:p.Leu373Arg
ENST00000678655.1:c.1092+1324T>G	ENSP00000504230.1:n.1092+1324T>G
ENST00000678706.1:c.*594T>G	ENSP00000503659.1:n.*594T>G
ENST00000678776.1:c.*1354T>G	ENSP00000504624.1:n.*1354T>G
ENST00000678784.1:c.1073-2271T>G	ENSP00000504652.1:n.1073-2271T>G
ENST00000678820.1:c.1089+1324T>G	ENSP00000504138.1:n.1089+1324T>G
ENST00000678835.1:c.*757-2271T>G	ENSP00000504343.1:n.*757-2271T>G
ENST00000679088.1:c.1217T>G	ENSP00000504727.1:p.Leu406Arg
ENST00000679098.1:c.1217T>G	ENSP00000504303.1:p.Leu406Arg
ENST00000366782.5:c.1316T>G	ENSP00000355746.1:p.Leu439Arg
ENST00000366783.7:c.1217T>G	ENSP00000355747.3:p.Leu406Arg
ENST00000422240.6:c.1214T>G	ENSP00000403737.2:p.Leu405Arg
ENST00000471728.1:n.475T>G
ENST00000472139.2:c.785T>G	ENSP00000427806.1:p.Leu262Arg
ENST00000626989.2:c.1316T>G	ENSP00000486498.1:p.Leu439Arg
NM_000447.2:c.1217T>G	NP_000438.2:p.Leu406Arg
NM_012486.2:c.1214T>G	NP_036618.2:p.Leu405Arg
XM_005273199.2:c.1217T>G	XP_005273256.1:p.Leu406Arg
XM_011544236.1:c.785T>G	XP_011542538.1:p.Leu262Arg
XR_949149.1:n.1951T>G
XM_005273199.4:c.1217T>G	XP_005273256.1:p.Leu406Arg
XM_017001835.1:c.1217T>G	XP_016857324.1:p.Leu406Arg
XM_017001836.1:c.1214T>G	XP_016857325.1:p.Leu405Arg
XR_001737316.2:n.1478-2271T>G
XR_001737317.2:n.1478-2271T>G
XR_001737318.2:n.1932T>G
XR_001737319.1:n.2275T>G
XR_001737320.1:n.2272T>G
XR_001737321.1:n.1767T>G
XR_949149.2:n.1929T>G
XR_949150.3:n.2148T>G
NM_000447.3:c.1217T>G MANE Select	NP_000438.2:p.Leu406Arg
NM_012486.3:c.1214T>G	NP_036618.2:p.Leu405Arg