Canonical Allele Identifier: CA345045248

Gene: PSEN2

Linked Data

• COSMIC: COSM6124874 ; COSM6124875
• MyVariant Identifiers: chr1:g.227083208C>G (hg19) ; chr1:g.226895507C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226895507C>G , CM000663.2:g.226895507C>G	GRCh38
NC_000001.10:g.227083208C>G , CM000663.1:g.227083208C>G	GRCh37
NC_000001.9:g.225149831C>G	NCBI36
NG_007381.1:g.29936C>G
NG_012825.2:g.2972C>G
NG_007381.2:g.30324C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.1275C>G	ENSP00000355741.2:p.Ile425Met
ENST00000366782.6:c.1275C>G	ENSP00000355746.2:p.Ile425Met
ENST00000366783.8:c.1275C>G MANE Select	ENSP00000355747.3:p.Ile425Met
ENST00000471728.2:n.1913C>G
ENST00000524196.6:c.1275C>G	ENSP00000429036.2:p.Ile425Met
ENST00000626989.3:c.1275C>G	ENSP00000486498.2:p.Ile425Met
ENST00000676467.1:c.*1102C>G	ENSP00000504294.1:n.*1102C>G
ENST00000676747.1:c.1188+1382C>G	ENSP00000503244.1:n.1188+1382C>G
ENST00000676884.1:c.1275C>G	ENSP00000503200.1:p.Ile425Met
ENST00000676888.1:c.*616C>G	ENSP00000504483.1:n.*616C>G
ENST00000676907.1:c.*854C>G	ENSP00000504410.1:n.*854C>G
ENST00000676945.1:c.1191+1382C>G	ENSP00000504433.1:n.1191+1382C>G
ENST00000677065.1:n.1836C>G
ENST00000677414.1:c.1275C>G	ENSP00000503116.1:p.Ile425Met
ENST00000677529.1:n.3005C>G
ENST00000677596.1:c.*1497C>G	ENSP00000503618.1:n.*1497C>G
ENST00000677599.1:c.1191+1382C>G	ENSP00000503673.1:n.1191+1382C>G
ENST00000677748.1:n.3530C>G
ENST00000677880.1:c.840C>G	ENSP00000503121.1:p.Ile280Met
ENST00000678021.1:c.*898C>G	ENSP00000504674.1:n.*898C>G
ENST00000678233.1:c.1275C>G	ENSP00000504728.1:p.Ile425Met
ENST00000678320.1:c.1176C>G	ENSP00000503680.1:p.Ile392Met
ENST00000678655.1:c.1092+1382C>G	ENSP00000504230.1:n.1092+1382C>G
ENST00000678706.1:c.*652C>G	ENSP00000503659.1:n.*652C>G
ENST00000678776.1:c.*1412C>G	ENSP00000504624.1:n.*1412C>G
ENST00000678784.1:c.1073-2213C>G	ENSP00000504652.1:n.1073-2213C>G
ENST00000678820.1:c.1089+1382C>G	ENSP00000504138.1:n.1089+1382C>G
ENST00000678835.1:c.*757-2213C>G	ENSP00000504343.1:n.*757-2213C>G
ENST00000679088.1:c.1275C>G	ENSP00000504727.1:p.Ile425Met
ENST00000679098.1:c.1275C>G	ENSP00000504303.1:p.Ile425Met
ENST00000366782.5:c.1374C>G	ENSP00000355746.1:p.Ile458Met
ENST00000366783.7:c.1275C>G	ENSP00000355747.3:p.Ile425Met
ENST00000422240.6:c.1272C>G	ENSP00000403737.2:p.Ile424Met
ENST00000471728.1:n.533C>G
ENST00000472139.2:c.843C>G	ENSP00000427806.1:p.Ile281Met
ENST00000626989.2:c.1374C>G	ENSP00000486498.1:p.Ile458Met
NM_000447.2:c.1275C>G	NP_000438.2:p.Ile425Met
NM_012486.2:c.1272C>G	NP_036618.2:p.Ile424Met
XM_005273199.2:c.1275C>G	XP_005273256.1:p.Ile425Met
XM_011544236.1:c.843C>G	XP_011542538.1:p.Ile281Met
XR_949149.1:n.2009C>G
XM_005273199.4:c.1275C>G	XP_005273256.1:p.Ile425Met
XM_017001835.1:c.1275C>G	XP_016857324.1:p.Ile425Met
XM_017001836.1:c.1272C>G	XP_016857325.1:p.Ile424Met
XR_001737316.2:n.1478-2213C>G
XR_001737317.2:n.1478-2213C>G
XR_001737318.2:n.1990C>G
XR_001737319.1:n.2333C>G
XR_001737320.1:n.2330C>G
XR_001737321.1:n.1825C>G
XR_949149.2:n.1987C>G
XR_949150.3:n.2206C>G
NM_000447.3:c.1275C>G MANE Select	NP_000438.2:p.Ile425Met
NM_012486.3:c.1272C>G	NP_036618.2:p.Ile424Met