Canonical Allele Identifier: CA345044634

Gene: PSEN2

Linked Data

• MyVariant Identifiers: chr1:g.227083134C>A (hg19) ; chr1:g.226895433C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226895433C>A , CM000663.2:g.226895433C>A	GRCh38
NC_000001.10:g.227083134C>A , CM000663.1:g.227083134C>A	GRCh37
NC_000001.9:g.225149757C>A	NCBI36
NG_007381.1:g.29862C>A
NG_012825.2:g.2898C>A
NG_007381.2:g.30250C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000366779.6:c.1201C>A	ENSP00000355741.2:p.Leu401Met
ENST00000366782.6:c.1201C>A	ENSP00000355746.2:p.Leu401Met
ENST00000366783.8:c.1201C>A MANE Select	ENSP00000355747.3:p.Leu401Met
ENST00000471728.2:n.1839C>A
ENST00000524196.6:c.1201C>A	ENSP00000429036.2:p.Leu401Met
ENST00000626989.3:c.1201C>A	ENSP00000486498.2:p.Leu401Met
ENST00000676467.1:c.*1028C>A	ENSP00000504294.1:n.*1028C>A
ENST00000676747.1:c.1188+1308C>A	ENSP00000503244.1:n.1188+1308C>A
ENST00000676884.1:c.1201C>A	ENSP00000503200.1:p.Leu401Met
ENST00000676888.1:c.*542C>A	ENSP00000504483.1:n.*542C>A
ENST00000676907.1:c.*780C>A	ENSP00000504410.1:n.*780C>A
ENST00000676945.1:c.1191+1308C>A	ENSP00000504433.1:n.1191+1308C>A
ENST00000677065.1:n.1762C>A
ENST00000677414.1:c.1201C>A	ENSP00000503116.1:p.Leu401Met
ENST00000677529.1:n.2931C>A
ENST00000677596.1:c.*1423C>A	ENSP00000503618.1:n.*1423C>A
ENST00000677599.1:c.1191+1308C>A	ENSP00000503673.1:n.1191+1308C>A
ENST00000677748.1:n.3456C>A
ENST00000677880.1:c.766C>A	ENSP00000503121.1:p.Leu256Met
ENST00000678021.1:c.*824C>A	ENSP00000504674.1:n.*824C>A
ENST00000678233.1:c.1201C>A	ENSP00000504728.1:p.Leu401Met
ENST00000678320.1:c.1102C>A	ENSP00000503680.1:p.Leu368Met
ENST00000678655.1:c.1092+1308C>A	ENSP00000504230.1:n.1092+1308C>A
ENST00000678706.1:c.*578C>A	ENSP00000503659.1:n.*578C>A
ENST00000678776.1:c.*1338C>A	ENSP00000504624.1:n.*1338C>A
ENST00000678784.1:c.1073-2287C>A	ENSP00000504652.1:n.1073-2287C>A
ENST00000678820.1:c.1089+1308C>A	ENSP00000504138.1:n.1089+1308C>A
ENST00000678835.1:c.*757-2287C>A	ENSP00000504343.1:n.*757-2287C>A
ENST00000679088.1:c.1201C>A	ENSP00000504727.1:p.Leu401Met
ENST00000679098.1:c.1201C>A	ENSP00000504303.1:p.Leu401Met
ENST00000366782.5:c.1300C>A	ENSP00000355746.1:p.Leu434Met
ENST00000366783.7:c.1201C>A	ENSP00000355747.3:p.Leu401Met
ENST00000422240.6:c.1198C>A	ENSP00000403737.2:p.Leu400Met
ENST00000471728.1:n.459C>A
ENST00000472139.2:c.769C>A	ENSP00000427806.1:p.Leu257Met
ENST00000626989.2:c.1300C>A	ENSP00000486498.1:p.Leu434Met
NM_000447.2:c.1201C>A	NP_000438.2:p.Leu401Met
NM_012486.2:c.1198C>A	NP_036618.2:p.Leu400Met
XM_005273199.2:c.1201C>A	XP_005273256.1:p.Leu401Met
XM_011544236.1:c.769C>A	XP_011542538.1:p.Leu257Met
XR_949149.1:n.1935C>A
XM_005273199.4:c.1201C>A	XP_005273256.1:p.Leu401Met
XM_017001835.1:c.1201C>A	XP_016857324.1:p.Leu401Met
XM_017001836.1:c.1198C>A	XP_016857325.1:p.Leu400Met
XR_001737316.2:n.1478-2287C>A
XR_001737317.2:n.1478-2287C>A
XR_001737318.2:n.1916C>A
XR_001737319.1:n.2259C>A
XR_001737320.1:n.2256C>A
XR_001737321.1:n.1751C>A
XR_949149.2:n.1913C>A
XR_949150.3:n.2132C>A
NM_000447.3:c.1201C>A MANE Select	NP_000438.2:p.Leu401Met
NM_012486.3:c.1198C>A	NP_036618.2:p.Leu400Met