Canonical Allele Identifier: CA345044687

Gene: PSEN2

Linked Data

• MyVariant Identifiers: chr1:g.227083140C>G (hg19) ; chr1:g.226895439C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226895439C>G , CM000663.2:g.226895439C>G	GRCh38
NC_000001.10:g.227083140C>G , CM000663.1:g.227083140C>G	GRCh37
NC_000001.9:g.225149763C>G	NCBI36
NG_007381.1:g.29868C>G
NG_012825.2:g.2904C>G
NG_007381.2:g.30256C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.1207C>G	ENSP00000355741.2:p.Leu403Val
ENST00000366782.6:c.1207C>G	ENSP00000355746.2:p.Leu403Val
ENST00000366783.8:c.1207C>G MANE Select	ENSP00000355747.3:p.Leu403Val
ENST00000471728.2:n.1845C>G
ENST00000524196.6:c.1207C>G	ENSP00000429036.2:p.Leu403Val
ENST00000626989.3:c.1207C>G	ENSP00000486498.2:p.Leu403Val
ENST00000676467.1:c.*1034C>G	ENSP00000504294.1:n.*1034C>G
ENST00000676747.1:c.1188+1314C>G	ENSP00000503244.1:n.1188+1314C>G
ENST00000676884.1:c.1207C>G	ENSP00000503200.1:p.Leu403Val
ENST00000676888.1:c.*548C>G	ENSP00000504483.1:n.*548C>G
ENST00000676907.1:c.*786C>G	ENSP00000504410.1:n.*786C>G
ENST00000676945.1:c.1191+1314C>G	ENSP00000504433.1:n.1191+1314C>G
ENST00000677065.1:n.1768C>G
ENST00000677414.1:c.1207C>G	ENSP00000503116.1:p.Leu403Val
ENST00000677529.1:n.2937C>G
ENST00000677596.1:c.*1429C>G	ENSP00000503618.1:n.*1429C>G
ENST00000677599.1:c.1191+1314C>G	ENSP00000503673.1:n.1191+1314C>G
ENST00000677748.1:n.3462C>G
ENST00000677880.1:c.772C>G	ENSP00000503121.1:p.Leu258Val
ENST00000678021.1:c.*830C>G	ENSP00000504674.1:n.*830C>G
ENST00000678233.1:c.1207C>G	ENSP00000504728.1:p.Leu403Val
ENST00000678320.1:c.1108C>G	ENSP00000503680.1:p.Leu370Val
ENST00000678655.1:c.1092+1314C>G	ENSP00000504230.1:n.1092+1314C>G
ENST00000678706.1:c.*584C>G	ENSP00000503659.1:n.*584C>G
ENST00000678776.1:c.*1344C>G	ENSP00000504624.1:n.*1344C>G
ENST00000678784.1:c.1073-2281C>G	ENSP00000504652.1:n.1073-2281C>G
ENST00000678820.1:c.1089+1314C>G	ENSP00000504138.1:n.1089+1314C>G
ENST00000678835.1:c.*757-2281C>G	ENSP00000504343.1:n.*757-2281C>G
ENST00000679088.1:c.1207C>G	ENSP00000504727.1:p.Leu403Val
ENST00000679098.1:c.1207C>G	ENSP00000504303.1:p.Leu403Val
ENST00000366782.5:c.1306C>G	ENSP00000355746.1:p.Leu436Val
ENST00000366783.7:c.1207C>G	ENSP00000355747.3:p.Leu403Val
ENST00000422240.6:c.1204C>G	ENSP00000403737.2:p.Leu402Val
ENST00000471728.1:n.465C>G
ENST00000472139.2:c.775C>G	ENSP00000427806.1:p.Leu259Val
ENST00000626989.2:c.1306C>G	ENSP00000486498.1:p.Leu436Val
NM_000447.2:c.1207C>G	NP_000438.2:p.Leu403Val
NM_012486.2:c.1204C>G	NP_036618.2:p.Leu402Val
XM_005273199.2:c.1207C>G	XP_005273256.1:p.Leu403Val
XM_011544236.1:c.775C>G	XP_011542538.1:p.Leu259Val
XR_949149.1:n.1941C>G
XM_005273199.4:c.1207C>G	XP_005273256.1:p.Leu403Val
XM_017001835.1:c.1207C>G	XP_016857324.1:p.Leu403Val
XM_017001836.1:c.1204C>G	XP_016857325.1:p.Leu402Val
XR_001737316.2:n.1478-2281C>G
XR_001737317.2:n.1478-2281C>G
XR_001737318.2:n.1922C>G
XR_001737319.1:n.2265C>G
XR_001737320.1:n.2262C>G
XR_001737321.1:n.1757C>G
XR_949149.2:n.1919C>G
XR_949150.3:n.2138C>G
NM_000447.3:c.1207C>G MANE Select	NP_000438.2:p.Leu403Val
NM_012486.3:c.1204C>G	NP_036618.2:p.Leu402Val