Canonical Allele Identifier: CA1424859

Gene: PSEN2

Linked Data

• ClinVar Variation Id: 3043063
• ClinVar RCV Id: RCV003933899
• dbSNP Id: rs766859560
• ExAC: 1:227083196 G / A
• gnomAD v2: 1-227083196-G-A
• gnomAD v3: 1-226895495-G-A
• gnomAD v4: 1-226895495-G-A
• COSMIC: COSM904781 ; COSM5827752
• MyVariant Identifiers: chr1:g.227083196G>A (hg19) ; chr1:g.226895495G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226895495G>A , CM000663.2:g.226895495G>A	GRCh38
NC_000001.10:g.227083196G>A , CM000663.1:g.227083196G>A	GRCh37
NC_000001.9:g.225149819G>A	NCBI36
NG_007381.1:g.29924G>A
NG_012825.2:g.2960G>A
NG_007381.2:g.30312G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.1263G>A	ENSP00000355741.2:p.Thr421=
ENST00000366782.6:c.1263G>A	ENSP00000355746.2:p.Thr421=
ENST00000366783.8:c.1263G>A MANE Select	ENSP00000355747.3:p.Thr421=
ENST00000471728.2:n.1901G>A
ENST00000524196.6:c.1263G>A	ENSP00000429036.2:p.Thr421=
ENST00000626989.3:c.1263G>A	ENSP00000486498.2:p.Thr421=
ENST00000676467.1:c.*1090G>A	ENSP00000504294.1:n.*1090G>A
ENST00000676747.1:c.1188+1370G>A	ENSP00000503244.1:n.1188+1370G>A
ENST00000676884.1:c.1263G>A	ENSP00000503200.1:p.Thr421=
ENST00000676888.1:c.*604G>A	ENSP00000504483.1:n.*604G>A
ENST00000676907.1:c.*842G>A	ENSP00000504410.1:n.*842G>A
ENST00000676945.1:c.1191+1370G>A	ENSP00000504433.1:n.1191+1370G>A
ENST00000677065.1:n.1824G>A
ENST00000677414.1:c.1263G>A	ENSP00000503116.1:p.Thr421=
ENST00000677529.1:n.2993G>A
ENST00000677596.1:c.*1485G>A	ENSP00000503618.1:n.*1485G>A
ENST00000677599.1:c.1191+1370G>A	ENSP00000503673.1:n.1191+1370G>A
ENST00000677748.1:n.3518G>A
ENST00000677880.1:c.828G>A	ENSP00000503121.1:p.Thr276=
ENST00000678021.1:c.*886G>A	ENSP00000504674.1:n.*886G>A
ENST00000678233.1:c.1263G>A	ENSP00000504728.1:p.Thr421=
ENST00000678320.1:c.1164G>A	ENSP00000503680.1:p.Thr388=
ENST00000678655.1:c.1092+1370G>A	ENSP00000504230.1:n.1092+1370G>A
ENST00000678706.1:c.*640G>A	ENSP00000503659.1:n.*640G>A
ENST00000678776.1:c.*1400G>A	ENSP00000504624.1:n.*1400G>A
ENST00000678784.1:c.1073-2225G>A	ENSP00000504652.1:n.1073-2225G>A
ENST00000678820.1:c.1089+1370G>A	ENSP00000504138.1:n.1089+1370G>A
ENST00000678835.1:c.*757-2225G>A	ENSP00000504343.1:n.*757-2225G>A
ENST00000679088.1:c.1263G>A	ENSP00000504727.1:p.Thr421=
ENST00000679098.1:c.1263G>A	ENSP00000504303.1:p.Thr421=
ENST00000366782.5:c.1362G>A	ENSP00000355746.1:p.Thr454=
ENST00000366783.7:c.1263G>A	ENSP00000355747.3:p.Thr421=
ENST00000422240.6:c.1260G>A	ENSP00000403737.2:p.Thr420=
ENST00000471728.1:n.521G>A
ENST00000472139.2:c.831G>A	ENSP00000427806.1:p.Thr277=
ENST00000626989.2:c.1362G>A	ENSP00000486498.1:p.Thr454=
NM_000447.2:c.1263G>A	NP_000438.2:p.Thr421=
NM_012486.2:c.1260G>A	NP_036618.2:p.Thr420=
XM_005273199.2:c.1263G>A	XP_005273256.1:p.Thr421=
XM_011544236.1:c.831G>A	XP_011542538.1:p.Thr277=
XR_949149.1:n.1997G>A
XM_005273199.4:c.1263G>A	XP_005273256.1:p.Thr421=
XM_017001835.1:c.1263G>A	XP_016857324.1:p.Thr421=
XM_017001836.1:c.1260G>A	XP_016857325.1:p.Thr420=
XR_001737316.2:n.1478-2225G>A
XR_001737317.2:n.1478-2225G>A
XR_001737318.2:n.1978G>A
XR_001737319.1:n.2321G>A
XR_001737320.1:n.2318G>A
XR_001737321.1:n.1813G>A
XR_949149.2:n.1975G>A
XR_949150.3:n.2194G>A
NM_000447.3:c.1263G>A MANE Select	NP_000438.2:p.Thr421=
NM_012486.3:c.1260G>A	NP_036618.2:p.Thr420=