Canonical Allele Identifier: CA345045197

Gene: PSEN2

Linked Data

• MyVariant Identifiers: chr1:g.227083201G>A (hg19) ; chr1:g.226895500G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226895500G>A , CM000663.2:g.226895500G>A	GRCh38
NC_000001.10:g.227083201G>A , CM000663.1:g.227083201G>A	GRCh37
NC_000001.9:g.225149824G>A	NCBI36
NG_007381.1:g.29929G>A
NG_012825.2:g.2965G>A
NG_007381.2:g.30317G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.1268G>A	ENSP00000355741.2:p.Gly423Glu
ENST00000366782.6:c.1268G>A	ENSP00000355746.2:p.Gly423Glu
ENST00000366783.8:c.1268G>A MANE Select	ENSP00000355747.3:p.Gly423Glu
ENST00000471728.2:n.1906G>A
ENST00000524196.6:c.1268G>A	ENSP00000429036.2:p.Gly423Glu
ENST00000626989.3:c.1268G>A	ENSP00000486498.2:p.Gly423Glu
ENST00000676467.1:c.*1095G>A	ENSP00000504294.1:n.*1095G>A
ENST00000676747.1:c.1188+1375G>A	ENSP00000503244.1:n.1188+1375G>A
ENST00000676884.1:c.1268G>A	ENSP00000503200.1:p.Gly423Glu
ENST00000676888.1:c.*609G>A	ENSP00000504483.1:n.*609G>A
ENST00000676907.1:c.*847G>A	ENSP00000504410.1:n.*847G>A
ENST00000676945.1:c.1191+1375G>A	ENSP00000504433.1:n.1191+1375G>A
ENST00000677065.1:n.1829G>A
ENST00000677414.1:c.1268G>A	ENSP00000503116.1:p.Gly423Glu
ENST00000677529.1:n.2998G>A
ENST00000677596.1:c.*1490G>A	ENSP00000503618.1:n.*1490G>A
ENST00000677599.1:c.1191+1375G>A	ENSP00000503673.1:n.1191+1375G>A
ENST00000677748.1:n.3523G>A
ENST00000677880.1:c.833G>A	ENSP00000503121.1:p.Gly278Glu
ENST00000678021.1:c.*891G>A	ENSP00000504674.1:n.*891G>A
ENST00000678233.1:c.1268G>A	ENSP00000504728.1:p.Gly423Glu
ENST00000678320.1:c.1169G>A	ENSP00000503680.1:p.Gly390Glu
ENST00000678655.1:c.1092+1375G>A	ENSP00000504230.1:n.1092+1375G>A
ENST00000678706.1:c.*645G>A	ENSP00000503659.1:n.*645G>A
ENST00000678776.1:c.*1405G>A	ENSP00000504624.1:n.*1405G>A
ENST00000678784.1:c.1073-2220G>A	ENSP00000504652.1:n.1073-2220G>A
ENST00000678820.1:c.1089+1375G>A	ENSP00000504138.1:n.1089+1375G>A
ENST00000678835.1:c.*757-2220G>A	ENSP00000504343.1:n.*757-2220G>A
ENST00000679088.1:c.1268G>A	ENSP00000504727.1:p.Gly423Glu
ENST00000679098.1:c.1268G>A	ENSP00000504303.1:p.Gly423Glu
ENST00000366782.5:c.1367G>A	ENSP00000355746.1:p.Gly456Glu
ENST00000366783.7:c.1268G>A	ENSP00000355747.3:p.Gly423Glu
ENST00000422240.6:c.1265G>A	ENSP00000403737.2:p.Gly422Glu
ENST00000471728.1:n.526G>A
ENST00000472139.2:c.836G>A	ENSP00000427806.1:p.Gly279Glu
ENST00000626989.2:c.1367G>A	ENSP00000486498.1:p.Gly456Glu
NM_000447.2:c.1268G>A	NP_000438.2:p.Gly423Glu
NM_012486.2:c.1265G>A	NP_036618.2:p.Gly422Glu
XM_005273199.2:c.1268G>A	XP_005273256.1:p.Gly423Glu
XM_011544236.1:c.836G>A	XP_011542538.1:p.Gly279Glu
XR_949149.1:n.2002G>A
XM_005273199.4:c.1268G>A	XP_005273256.1:p.Gly423Glu
XM_017001835.1:c.1268G>A	XP_016857324.1:p.Gly423Glu
XM_017001836.1:c.1265G>A	XP_016857325.1:p.Gly422Glu
XR_001737316.2:n.1478-2220G>A
XR_001737317.2:n.1478-2220G>A
XR_001737318.2:n.1983G>A
XR_001737319.1:n.2326G>A
XR_001737320.1:n.2323G>A
XR_001737321.1:n.1818G>A
XR_949149.2:n.1980G>A
XR_949150.3:n.2199G>A
NM_000447.3:c.1268G>A MANE Select	NP_000438.2:p.Gly423Glu
NM_012486.3:c.1265G>A	NP_036618.2:p.Gly422Glu