Canonical Allele Identifier: CA1424713

Gene: PSEN2

Linked Data

• ClinVar Variation Id: 295993
• ClinVar RCV Id: RCV000311630 ; RCV000404043 ; RCV002472982
• dbSNP Id: rs756225509
• ExAC: 1:227079029 G / A
• gnomAD v2: 1-227079029-G-A
• gnomAD v3: 1-226891328-G-A
• gnomAD v4: 1-226891328-G-A
• MyVariant Identifiers: chr1:g.227079029G>A (hg19) ; chr1:g.226891328G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226891328G>A , CM000663.2:g.226891328G>A	GRCh38
NC_000001.10:g.227079029G>A , CM000663.1:g.227079029G>A	GRCh37
NC_000001.9:g.225145652G>A	NCBI36
NG_007381.1:g.25757G>A
NG_007381.2:g.26145G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000366779.6:c.937G>A	ENSP00000355741.2:p.Gly313Ser
ENST00000366782.6:c.937G>A	ENSP00000355746.2:p.Gly313Ser
ENST00000366783.8:c.937G>A MANE Select	ENSP00000355747.3:p.Gly313Ser
ENST00000471728.2:n.1578G>A
ENST00000524196.6:c.937G>A	ENSP00000429036.2:p.Gly313Ser
ENST00000626989.3:c.937G>A	ENSP00000486498.2:p.Gly313Ser
ENST00000676467.1:c.*767G>A	ENSP00000504294.1:n.*767G>A
ENST00000676747.1:c.937G>A	ENSP00000503244.1:p.Gly313Ser
ENST00000676884.1:c.937G>A	ENSP00000503200.1:p.Gly313Ser
ENST00000676888.1:c.*281G>A	ENSP00000504483.1:n.*281G>A
ENST00000676907.1:c.*516G>A	ENSP00000504410.1:n.*516G>A
ENST00000676945.1:c.937G>A	ENSP00000504433.1:p.Gly313Ser
ENST00000677065.1:n.1498G>A
ENST00000677414.1:c.937G>A	ENSP00000503116.1:p.Gly313Ser
ENST00000677529.1:n.2670G>A
ENST00000677596.1:c.*1154G>A	ENSP00000503618.1:n.*1154G>A
ENST00000677599.1:c.937G>A	ENSP00000503673.1:p.Gly313Ser
ENST00000677748.1:n.3192G>A
ENST00000677880.1:c.505G>A	ENSP00000503121.1:p.Gly169Ser
ENST00000678021.1:c.*560G>A	ENSP00000504674.1:n.*560G>A
ENST00000678233.1:c.937G>A	ENSP00000504728.1:p.Gly313Ser
ENST00000678320.1:c.838G>A	ENSP00000503680.1:p.Gly280Ser
ENST00000678655.1:c.838G>A	ENSP00000504230.1:p.Gly280Ser
ENST00000678706.1:c.*314G>A	ENSP00000503659.1:n.*314G>A
ENST00000678776.1:c.*1077G>A	ENSP00000504624.1:n.*1077G>A
ENST00000678784.1:c.937G>A	ENSP00000504652.1:p.Gly313Ser
ENST00000678820.1:c.838G>A	ENSP00000504138.1:p.Gly280Ser
ENST00000678835.1:c.*624G>A	ENSP00000504343.1:n.*624G>A
ENST00000679088.1:c.937G>A	ENSP00000504727.1:p.Gly313Ser
ENST00000679098.1:c.937G>A	ENSP00000504303.1:p.Gly313Ser
ENST00000366782.5:c.1036G>A	ENSP00000355746.1:p.Gly346Ser
ENST00000366783.7:c.937G>A	ENSP00000355747.3:p.Gly313Ser
ENST00000422240.6:c.937G>A	ENSP00000403737.2:p.Gly313Ser
ENST00000460775.5:c.418G>A	ENSP00000427912.1:p.Gly140Ser
ENST00000471728.1:n.198G>A
ENST00000472139.2:c.505G>A	ENSP00000427806.1:p.Gly169Ser
ENST00000487450.1:n.451G>A
ENST00000626989.2:c.1036G>A	ENSP00000486498.1:p.Gly346Ser
NM_000447.2:c.937G>A	NP_000438.2:p.Gly313Ser
NM_012486.2:c.937G>A	NP_036618.2:p.Gly313Ser
XM_005273199.2:c.937G>A	XP_005273256.1:p.Gly313Ser
XM_011544236.1:c.505G>A	XP_011542538.1:p.Gly169Ser
XR_949149.1:n.1674G>A
XM_005273199.4:c.937G>A	XP_005273256.1:p.Gly313Ser
XM_017001835.1:c.937G>A	XP_016857324.1:p.Gly313Ser
XM_017001836.1:c.937G>A	XP_016857325.1:p.Gly313Ser
XR_001737316.2:n.1342G>A
XR_001737317.2:n.1342G>A
XR_001737318.2:n.1652G>A
XR_001737319.1:n.1995G>A
XR_001737320.1:n.1995G>A
XR_001737321.1:n.1487G>A
XR_949149.2:n.1652G>A
XR_949150.3:n.1868G>A
NM_000447.3:c.937G>A MANE Select	NP_000438.2:p.Gly313Ser
NM_012486.3:c.937G>A	NP_036618.2:p.Gly313Ser