Canonical Allele Identifier: CA345043918

Gene: PSEN2

Linked Data

• MyVariant Identifiers: chr1:g.227081725C>A (hg19) ; chr1:g.226894024C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226894024C>A , CM000663.2:g.226894024C>A	GRCh38
NC_000001.10:g.227081725C>A , CM000663.1:g.227081725C>A	GRCh37
NC_000001.9:g.225148348C>A	NCBI36
NG_007381.1:g.28453C>A
NG_012825.2:g.1489C>A
NG_007381.2:g.28841C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.1090C>A	ENSP00000355741.2:p.Leu364Ile
ENST00000366782.6:c.1090C>A	ENSP00000355746.2:p.Leu364Ile
ENST00000366783.8:c.1090C>A MANE Select	ENSP00000355747.3:p.Leu364Ile
ENST00000471728.2:n.1728C>A
ENST00000524196.6:c.1090C>A	ENSP00000429036.2:p.Leu364Ile
ENST00000626989.3:c.1090C>A	ENSP00000486498.2:p.Leu364Ile
ENST00000676467.1:c.*917C>A	ENSP00000504294.1:n.*917C>A
ENST00000676747.1:c.1087C>A	ENSP00000503244.1:p.Leu363Ile
ENST00000676884.1:c.1090C>A	ENSP00000503200.1:p.Leu364Ile
ENST00000676888.1:c.*431C>A	ENSP00000504483.1:n.*431C>A
ENST00000676907.1:c.*669C>A	ENSP00000504410.1:n.*669C>A
ENST00000676945.1:c.1090C>A	ENSP00000504433.1:p.Leu364Ile
ENST00000677065.1:n.1651C>A
ENST00000677414.1:c.1090C>A	ENSP00000503116.1:p.Leu364Ile
ENST00000677529.1:n.2820C>A
ENST00000677596.1:c.*1312C>A	ENSP00000503618.1:n.*1312C>A
ENST00000677599.1:c.1090C>A	ENSP00000503673.1:p.Leu364Ile
ENST00000677748.1:n.3345C>A
ENST00000677880.1:c.655C>A	ENSP00000503121.1:p.Leu219Ile
ENST00000678021.1:c.*713C>A	ENSP00000504674.1:n.*713C>A
ENST00000678233.1:c.1090C>A	ENSP00000504728.1:p.Leu364Ile
ENST00000678320.1:c.991C>A	ENSP00000503680.1:p.Leu331Ile
ENST00000678655.1:c.991C>A	ENSP00000504230.1:p.Leu331Ile
ENST00000678706.1:c.*467C>A	ENSP00000503659.1:n.*467C>A
ENST00000678776.1:c.*1227C>A	ENSP00000504624.1:n.*1227C>A
ENST00000678784.1:c.1072+2180C>A	ENSP00000504652.1:n.1072+2180C>A
ENST00000678820.1:c.988C>A	ENSP00000504138.1:p.Leu330Ile
ENST00000678835.1:c.*756+2180C>A	ENSP00000504343.1:n.*756+2180C>A
ENST00000679088.1:c.1090C>A	ENSP00000504727.1:p.Leu364Ile
ENST00000679098.1:c.1090C>A	ENSP00000504303.1:p.Leu364Ile
ENST00000366782.5:c.1189C>A	ENSP00000355746.1:p.Leu397Ile
ENST00000366783.7:c.1090C>A	ENSP00000355747.3:p.Leu364Ile
ENST00000422240.6:c.1087C>A	ENSP00000403737.2:p.Leu363Ile
ENST00000471728.1:n.348C>A
ENST00000472139.2:c.658C>A	ENSP00000427806.1:p.Leu220Ile
ENST00000626989.2:c.1189C>A	ENSP00000486498.1:p.Leu397Ile
NM_000447.2:c.1090C>A	NP_000438.2:p.Leu364Ile
NM_012486.2:c.1087C>A	NP_036618.2:p.Leu363Ile
XM_005273199.2:c.1090C>A	XP_005273256.1:p.Leu364Ile
XM_011544236.1:c.658C>A	XP_011542538.1:p.Leu220Ile
XR_949149.1:n.1824C>A
XM_005273199.4:c.1090C>A	XP_005273256.1:p.Leu364Ile
XM_017001835.1:c.1090C>A	XP_016857324.1:p.Leu364Ile
XM_017001836.1:c.1087C>A	XP_016857325.1:p.Leu363Ile
XR_001737316.2:n.1477+2180C>A
XR_001737317.2:n.1477+2180C>A
XR_001737318.2:n.1805C>A
XR_001737319.1:n.2148C>A
XR_001737320.1:n.2145C>A
XR_001737321.1:n.1640C>A
XR_949149.2:n.1802C>A
XR_949150.3:n.2021C>A
NM_000447.3:c.1090C>A MANE Select	NP_000438.2:p.Leu364Ile
NM_012486.3:c.1087C>A	NP_036618.2:p.Leu363Ile