Canonical Allele Identifier: CA345045004

Gene: PSEN2

Linked Data

• MyVariant Identifiers: chr1:g.227083179C>A (hg19) ; chr1:g.226895478C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226895478C>A , CM000663.2:g.226895478C>A	GRCh38
NC_000001.10:g.227083179C>A , CM000663.1:g.227083179C>A	GRCh37
NC_000001.9:g.225149802C>A	NCBI36
NG_007381.1:g.29907C>A
NG_012825.2:g.2943C>A
NG_007381.2:g.30295C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.1246C>A	ENSP00000355741.2:p.Leu416Ile
ENST00000366782.6:c.1246C>A	ENSP00000355746.2:p.Leu416Ile
ENST00000366783.8:c.1246C>A MANE Select	ENSP00000355747.3:p.Leu416Ile
ENST00000471728.2:n.1884C>A
ENST00000524196.6:c.1246C>A	ENSP00000429036.2:p.Leu416Ile
ENST00000626989.3:c.1246C>A	ENSP00000486498.2:p.Leu416Ile
ENST00000676467.1:c.*1073C>A	ENSP00000504294.1:n.*1073C>A
ENST00000676747.1:c.1188+1353C>A	ENSP00000503244.1:n.1188+1353C>A
ENST00000676884.1:c.1246C>A	ENSP00000503200.1:p.Leu416Ile
ENST00000676888.1:c.*587C>A	ENSP00000504483.1:n.*587C>A
ENST00000676907.1:c.*825C>A	ENSP00000504410.1:n.*825C>A
ENST00000676945.1:c.1191+1353C>A	ENSP00000504433.1:n.1191+1353C>A
ENST00000677065.1:n.1807C>A
ENST00000677414.1:c.1246C>A	ENSP00000503116.1:p.Leu416Ile
ENST00000677529.1:n.2976C>A
ENST00000677596.1:c.*1468C>A	ENSP00000503618.1:n.*1468C>A
ENST00000677599.1:c.1191+1353C>A	ENSP00000503673.1:n.1191+1353C>A
ENST00000677748.1:n.3501C>A
ENST00000677880.1:c.811C>A	ENSP00000503121.1:p.Leu271Ile
ENST00000678021.1:c.*869C>A	ENSP00000504674.1:n.*869C>A
ENST00000678233.1:c.1246C>A	ENSP00000504728.1:p.Leu416Ile
ENST00000678320.1:c.1147C>A	ENSP00000503680.1:p.Leu383Ile
ENST00000678655.1:c.1092+1353C>A	ENSP00000504230.1:n.1092+1353C>A
ENST00000678706.1:c.*623C>A	ENSP00000503659.1:n.*623C>A
ENST00000678776.1:c.*1383C>A	ENSP00000504624.1:n.*1383C>A
ENST00000678784.1:c.1073-2242C>A	ENSP00000504652.1:n.1073-2242C>A
ENST00000678820.1:c.1089+1353C>A	ENSP00000504138.1:n.1089+1353C>A
ENST00000678835.1:c.*757-2242C>A	ENSP00000504343.1:n.*757-2242C>A
ENST00000679088.1:c.1246C>A	ENSP00000504727.1:p.Leu416Ile
ENST00000679098.1:c.1246C>A	ENSP00000504303.1:p.Leu416Ile
ENST00000366782.5:c.1345C>A	ENSP00000355746.1:p.Leu449Ile
ENST00000366783.7:c.1246C>A	ENSP00000355747.3:p.Leu416Ile
ENST00000422240.6:c.1243C>A	ENSP00000403737.2:p.Leu415Ile
ENST00000471728.1:n.504C>A
ENST00000472139.2:c.814C>A	ENSP00000427806.1:p.Leu272Ile
ENST00000626989.2:c.1345C>A	ENSP00000486498.1:p.Leu449Ile
NM_000447.2:c.1246C>A	NP_000438.2:p.Leu416Ile
NM_012486.2:c.1243C>A	NP_036618.2:p.Leu415Ile
XM_005273199.2:c.1246C>A	XP_005273256.1:p.Leu416Ile
XM_011544236.1:c.814C>A	XP_011542538.1:p.Leu272Ile
XR_949149.1:n.1980C>A
XM_005273199.4:c.1246C>A	XP_005273256.1:p.Leu416Ile
XM_017001835.1:c.1246C>A	XP_016857324.1:p.Leu416Ile
XM_017001836.1:c.1243C>A	XP_016857325.1:p.Leu415Ile
XR_001737316.2:n.1478-2242C>A
XR_001737317.2:n.1478-2242C>A
XR_001737318.2:n.1961C>A
XR_001737319.1:n.2304C>A
XR_001737320.1:n.2301C>A
XR_001737321.1:n.1796C>A
XR_949149.2:n.1958C>A
XR_949150.3:n.2177C>A
NM_000447.3:c.1246C>A MANE Select	NP_000438.2:p.Leu416Ile
NM_012486.3:c.1243C>A	NP_036618.2:p.Leu415Ile