Canonical Allele Identifier: CA345044556

Gene: PSEN2

Linked Data

• dbSNP Id: rs1662076045
• MyVariant Identifiers: chr1:g.227083126G>T (hg19) ; chr1:g.226895425G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226895425G>T , CM000663.2:g.226895425G>T	GRCh38
NC_000001.10:g.227083126G>T , CM000663.1:g.227083126G>T	GRCh37
NC_000001.9:g.225149749G>T	NCBI36
NG_007381.1:g.29854G>T
NG_012825.2:g.2890G>T
NG_007381.2:g.30242G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000366779.6:c.1193G>T	ENSP00000355741.2:p.Gly398Val
ENST00000366782.6:c.1193G>T	ENSP00000355746.2:p.Gly398Val
ENST00000366783.8:c.1193G>T MANE Select	ENSP00000355747.3:p.Gly398Val
ENST00000471728.2:n.1831G>T
ENST00000524196.6:c.1193G>T	ENSP00000429036.2:p.Gly398Val
ENST00000626989.3:c.1193G>T	ENSP00000486498.2:p.Gly398Val
ENST00000676467.1:c.*1020G>T	ENSP00000504294.1:n.*1020G>T
ENST00000676747.1:c.1188+1300G>T	ENSP00000503244.1:n.1188+1300G>T
ENST00000676884.1:c.1193G>T	ENSP00000503200.1:p.Gly398Val
ENST00000676888.1:c.*534G>T	ENSP00000504483.1:n.*534G>T
ENST00000676907.1:c.*772G>T	ENSP00000504410.1:n.*772G>T
ENST00000676945.1:c.1191+1300G>T	ENSP00000504433.1:n.1191+1300G>T
ENST00000677065.1:n.1754G>T
ENST00000677414.1:c.1193G>T	ENSP00000503116.1:p.Gly398Val
ENST00000677529.1:n.2923G>T
ENST00000677596.1:c.*1415G>T	ENSP00000503618.1:n.*1415G>T
ENST00000677599.1:c.1191+1300G>T	ENSP00000503673.1:n.1191+1300G>T
ENST00000677748.1:n.3448G>T
ENST00000677880.1:c.758G>T	ENSP00000503121.1:p.Gly253Val
ENST00000678021.1:c.*816G>T	ENSP00000504674.1:n.*816G>T
ENST00000678233.1:c.1193G>T	ENSP00000504728.1:p.Gly398Val
ENST00000678320.1:c.1094G>T	ENSP00000503680.1:p.Gly365Val
ENST00000678655.1:c.1092+1300G>T	ENSP00000504230.1:n.1092+1300G>T
ENST00000678706.1:c.*570G>T	ENSP00000503659.1:n.*570G>T
ENST00000678776.1:c.*1330G>T	ENSP00000504624.1:n.*1330G>T
ENST00000678784.1:c.1073-2295G>T	ENSP00000504652.1:n.1073-2295G>T
ENST00000678820.1:c.1089+1300G>T	ENSP00000504138.1:n.1089+1300G>T
ENST00000678835.1:c.*757-2295G>T	ENSP00000504343.1:n.*757-2295G>T
ENST00000679088.1:c.1193G>T	ENSP00000504727.1:p.Gly398Val
ENST00000679098.1:c.1193G>T	ENSP00000504303.1:p.Gly398Val
ENST00000366782.5:c.1292G>T	ENSP00000355746.1:p.Gly431Val
ENST00000366783.7:c.1193G>T	ENSP00000355747.3:p.Gly398Val
ENST00000422240.6:c.1190G>T	ENSP00000403737.2:p.Gly397Val
ENST00000471728.1:n.451G>T
ENST00000472139.2:c.761G>T	ENSP00000427806.1:p.Gly254Val
ENST00000626989.2:c.1292G>T	ENSP00000486498.1:p.Gly431Val
NM_000447.2:c.1193G>T	NP_000438.2:p.Gly398Val
NM_012486.2:c.1190G>T	NP_036618.2:p.Gly397Val
XM_005273199.2:c.1193G>T	XP_005273256.1:p.Gly398Val
XM_011544236.1:c.761G>T	XP_011542538.1:p.Gly254Val
XR_949149.1:n.1927G>T
XM_005273199.4:c.1193G>T	XP_005273256.1:p.Gly398Val
XM_017001835.1:c.1193G>T	XP_016857324.1:p.Gly398Val
XM_017001836.1:c.1190G>T	XP_016857325.1:p.Gly397Val
XR_001737316.2:n.1478-2295G>T
XR_001737317.2:n.1478-2295G>T
XR_001737318.2:n.1908G>T
XR_001737319.1:n.2251G>T
XR_001737320.1:n.2248G>T
XR_001737321.1:n.1743G>T
XR_949149.2:n.1905G>T
XR_949150.3:n.2124G>T
NM_000447.3:c.1193G>T MANE Select	NP_000438.2:p.Gly398Val
NM_012486.3:c.1190G>T	NP_036618.2:p.Gly397Val