Canonical Allele Identifier: CA345044263

Gene: PSEN2

Linked Data

• MyVariant Identifiers: chr1:g.227081818A>G (hg19) ; chr1:g.226894117A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226894117A>G , CM000663.2:g.226894117A>G	GRCh38
NC_000001.10:g.227081818A>G , CM000663.1:g.227081818A>G	GRCh37
NC_000001.9:g.225148441A>G	NCBI36
NG_007381.1:g.28546A>G
NG_012825.2:g.1582A>G
NG_007381.2:g.28934A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.1183A>G	ENSP00000355741.2:p.Ile395Val
ENST00000366782.6:c.1183A>G	ENSP00000355746.2:p.Ile395Val
ENST00000366783.8:c.1183A>G MANE Select	ENSP00000355747.3:p.Ile395Val
ENST00000471728.2:n.1821A>G
ENST00000524196.6:c.1183A>G	ENSP00000429036.2:p.Ile395Val
ENST00000626989.3:c.1183A>G	ENSP00000486498.2:p.Ile395Val
ENST00000676467.1:c.*1010A>G	ENSP00000504294.1:n.*1010A>G
ENST00000676747.1:c.1180A>G	ENSP00000503244.1:p.Ile394Val
ENST00000676884.1:c.1183A>G	ENSP00000503200.1:p.Ile395Val
ENST00000676888.1:c.*524A>G	ENSP00000504483.1:n.*524A>G
ENST00000676907.1:c.*762A>G	ENSP00000504410.1:n.*762A>G
ENST00000676945.1:c.1183A>G	ENSP00000504433.1:p.Ile395Val
ENST00000677065.1:n.1744A>G
ENST00000677414.1:c.1183A>G	ENSP00000503116.1:p.Ile395Val
ENST00000677529.1:n.2913A>G
ENST00000677596.1:c.*1405A>G	ENSP00000503618.1:n.*1405A>G
ENST00000677599.1:c.1183A>G	ENSP00000503673.1:p.Ile395Val
ENST00000677748.1:n.3438A>G
ENST00000677880.1:c.748A>G	ENSP00000503121.1:p.Ile250Val
ENST00000678021.1:c.*806A>G	ENSP00000504674.1:n.*806A>G
ENST00000678233.1:c.1183A>G	ENSP00000504728.1:p.Ile395Val
ENST00000678320.1:c.1084A>G	ENSP00000503680.1:p.Ile362Val
ENST00000678655.1:c.1084A>G	ENSP00000504230.1:p.Ile362Val
ENST00000678706.1:c.*560A>G	ENSP00000503659.1:n.*560A>G
ENST00000678776.1:c.*1320A>G	ENSP00000504624.1:n.*1320A>G
ENST00000678784.1:c.1072+2273A>G	ENSP00000504652.1:n.1072+2273A>G
ENST00000678820.1:c.1081A>G	ENSP00000504138.1:p.Ile361Val
ENST00000678835.1:c.*756+2273A>G	ENSP00000504343.1:n.*756+2273A>G
ENST00000679088.1:c.1183A>G	ENSP00000504727.1:p.Ile395Val
ENST00000679098.1:c.1183A>G	ENSP00000504303.1:p.Ile395Val
ENST00000366782.5:c.1282A>G	ENSP00000355746.1:p.Ile428Val
ENST00000366783.7:c.1183A>G	ENSP00000355747.3:p.Ile395Val
ENST00000422240.6:c.1180A>G	ENSP00000403737.2:p.Ile394Val
ENST00000471728.1:n.441A>G
ENST00000472139.2:c.751A>G	ENSP00000427806.1:p.Ile251Val
ENST00000626989.2:c.1282A>G	ENSP00000486498.1:p.Ile428Val
NM_000447.2:c.1183A>G	NP_000438.2:p.Ile395Val
NM_012486.2:c.1180A>G	NP_036618.2:p.Ile394Val
XM_005273199.2:c.1183A>G	XP_005273256.1:p.Ile395Val
XM_011544236.1:c.751A>G	XP_011542538.1:p.Ile251Val
XR_949149.1:n.1917A>G
XM_005273199.4:c.1183A>G	XP_005273256.1:p.Ile395Val
XM_017001835.1:c.1183A>G	XP_016857324.1:p.Ile395Val
XM_017001836.1:c.1180A>G	XP_016857325.1:p.Ile394Val
XR_001737316.2:n.1477+2273A>G
XR_001737317.2:n.1477+2273A>G
XR_001737318.2:n.1898A>G
XR_001737319.1:n.2241A>G
XR_001737320.1:n.2238A>G
XR_001737321.1:n.1733A>G
XR_949149.2:n.1895A>G
XR_949150.3:n.2114A>G
NM_000447.3:c.1183A>G MANE Select	NP_000438.2:p.Ile395Val
NM_012486.3:c.1180A>G	NP_036618.2:p.Ile394Val