Canonical Allele Identifier: CA345044658

Gene: PSEN2

Linked Data

• MyVariant Identifiers: chr1:g.227083135T>G (hg19) ; chr1:g.226895434T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226895434T>G , CM000663.2:g.226895434T>G	GRCh38
NC_000001.10:g.227083135T>G , CM000663.1:g.227083135T>G	GRCh37
NC_000001.9:g.225149758T>G	NCBI36
NG_007381.1:g.29863T>G
NG_012825.2:g.2899T>G
NG_007381.2:g.30251T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000366779.6:c.1202T>G	ENSP00000355741.2:p.Leu401Arg
ENST00000366782.6:c.1202T>G	ENSP00000355746.2:p.Leu401Arg
ENST00000366783.8:c.1202T>G MANE Select	ENSP00000355747.3:p.Leu401Arg
ENST00000471728.2:n.1840T>G
ENST00000524196.6:c.1202T>G	ENSP00000429036.2:p.Leu401Arg
ENST00000626989.3:c.1202T>G	ENSP00000486498.2:p.Leu401Arg
ENST00000676467.1:c.*1029T>G	ENSP00000504294.1:n.*1029T>G
ENST00000676747.1:c.1188+1309T>G	ENSP00000503244.1:n.1188+1309T>G
ENST00000676884.1:c.1202T>G	ENSP00000503200.1:p.Leu401Arg
ENST00000676888.1:c.*543T>G	ENSP00000504483.1:n.*543T>G
ENST00000676907.1:c.*781T>G	ENSP00000504410.1:n.*781T>G
ENST00000676945.1:c.1191+1309T>G	ENSP00000504433.1:n.1191+1309T>G
ENST00000677065.1:n.1763T>G
ENST00000677414.1:c.1202T>G	ENSP00000503116.1:p.Leu401Arg
ENST00000677529.1:n.2932T>G
ENST00000677596.1:c.*1424T>G	ENSP00000503618.1:n.*1424T>G
ENST00000677599.1:c.1191+1309T>G	ENSP00000503673.1:n.1191+1309T>G
ENST00000677748.1:n.3457T>G
ENST00000677880.1:c.767T>G	ENSP00000503121.1:p.Leu256Arg
ENST00000678021.1:c.*825T>G	ENSP00000504674.1:n.*825T>G
ENST00000678233.1:c.1202T>G	ENSP00000504728.1:p.Leu401Arg
ENST00000678320.1:c.1103T>G	ENSP00000503680.1:p.Leu368Arg
ENST00000678655.1:c.1092+1309T>G	ENSP00000504230.1:n.1092+1309T>G
ENST00000678706.1:c.*579T>G	ENSP00000503659.1:n.*579T>G
ENST00000678776.1:c.*1339T>G	ENSP00000504624.1:n.*1339T>G
ENST00000678784.1:c.1073-2286T>G	ENSP00000504652.1:n.1073-2286T>G
ENST00000678820.1:c.1089+1309T>G	ENSP00000504138.1:n.1089+1309T>G
ENST00000678835.1:c.*757-2286T>G	ENSP00000504343.1:n.*757-2286T>G
ENST00000679088.1:c.1202T>G	ENSP00000504727.1:p.Leu401Arg
ENST00000679098.1:c.1202T>G	ENSP00000504303.1:p.Leu401Arg
ENST00000366782.5:c.1301T>G	ENSP00000355746.1:p.Leu434Arg
ENST00000366783.7:c.1202T>G	ENSP00000355747.3:p.Leu401Arg
ENST00000422240.6:c.1199T>G	ENSP00000403737.2:p.Leu400Arg
ENST00000471728.1:n.460T>G
ENST00000472139.2:c.770T>G	ENSP00000427806.1:p.Leu257Arg
ENST00000626989.2:c.1301T>G	ENSP00000486498.1:p.Leu434Arg
NM_000447.2:c.1202T>G	NP_000438.2:p.Leu401Arg
NM_012486.2:c.1199T>G	NP_036618.2:p.Leu400Arg
XM_005273199.2:c.1202T>G	XP_005273256.1:p.Leu401Arg
XM_011544236.1:c.770T>G	XP_011542538.1:p.Leu257Arg
XR_949149.1:n.1936T>G
XM_005273199.4:c.1202T>G	XP_005273256.1:p.Leu401Arg
XM_017001835.1:c.1202T>G	XP_016857324.1:p.Leu401Arg
XM_017001836.1:c.1199T>G	XP_016857325.1:p.Leu400Arg
XR_001737316.2:n.1478-2286T>G
XR_001737317.2:n.1478-2286T>G
XR_001737318.2:n.1917T>G
XR_001737319.1:n.2260T>G
XR_001737320.1:n.2257T>G
XR_001737321.1:n.1752T>G
XR_949149.2:n.1914T>G
XR_949150.3:n.2133T>G
NM_000447.3:c.1202T>G MANE Select	NP_000438.2:p.Leu401Arg
NM_012486.3:c.1199T>G	NP_036618.2:p.Leu400Arg