Canonical Allele Identifier: CA1424624

Gene: PSEN2

Linked Data

• ClinVar Variation Id: 705974
• ClinVar RCV Id: RCV001097462 ; RCV001097461
• dbSNP Id: rs138836272
• ExAC: 1:227076717 G / A
• gnomAD v2: 1-227076717-G-A
• gnomAD v3: 1-226889016-G-A
• gnomAD v4: 1-226889016-G-A
• MyVariant Identifiers: chr1:g.227076717G>A (hg19) ; chr1:g.226889016G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226889016G>A , CM000663.2:g.226889016G>A	GRCh38
NC_000001.10:g.227076717G>A , CM000663.1:g.227076717G>A	GRCh37
NC_000001.9:g.225143340G>A	NCBI36
NG_007381.1:g.23445G>A
NG_007381.2:g.23833G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366779.6:c.754G>A	ENSP00000355741.2:p.Ala252Thr
ENST00000366782.6:c.754G>A	ENSP00000355746.2:p.Ala252Thr
ENST00000366783.8:c.754G>A MANE Select	ENSP00000355747.3:p.Ala252Thr
ENST00000524196.6:c.754G>A	ENSP00000429036.2:p.Ala252Thr
ENST00000626989.3:c.754G>A	ENSP00000486498.2:p.Ala252Thr
ENST00000676467.1:c.*584G>A	ENSP00000504294.1:n.*584G>A
ENST00000676747.1:c.754G>A	ENSP00000503244.1:p.Ala252Thr
ENST00000676840.1:c.754G>A	ENSP00000504318.1:p.Ala252Thr
ENST00000676884.1:c.754G>A	ENSP00000503200.1:p.Ala252Thr
ENST00000676888.1:c.754G>A	ENSP00000504483.1:p.Ala252Thr
ENST00000676907.1:c.*333G>A	ENSP00000504410.1:n.*333G>A
ENST00000676945.1:c.754G>A	ENSP00000504433.1:p.Ala252Thr
ENST00000677065.1:n.1315G>A
ENST00000677414.1:c.754G>A	ENSP00000503116.1:p.Ala252Thr
ENST00000677529.1:n.1192G>A
ENST00000677596.1:c.*661G>A	ENSP00000503618.1:n.*661G>A
ENST00000677599.1:c.754G>A	ENSP00000503673.1:p.Ala252Thr
ENST00000677748.1:n.1192G>A
ENST00000677880.1:c.322G>A	ENSP00000503121.1:p.Ala108Thr
ENST00000678021.1:c.*377G>A	ENSP00000504674.1:n.*377G>A
ENST00000678233.1:c.754G>A	ENSP00000504728.1:p.Ala252Thr
ENST00000678320.1:c.754G>A	ENSP00000503680.1:p.Ala252Thr
ENST00000678655.1:c.754G>A	ENSP00000504230.1:p.Ala252Thr
ENST00000678706.1:c.754G>A	ENSP00000503659.1:p.Ala252Thr
ENST00000678776.1:c.*584G>A	ENSP00000504624.1:n.*584G>A
ENST00000678784.1:c.754G>A	ENSP00000504652.1:p.Ala252Thr
ENST00000678820.1:c.754G>A	ENSP00000504138.1:p.Ala252Thr
ENST00000678835.1:c.754G>A	ENSP00000504343.1:p.Ala252Thr
ENST00000679088.1:c.754G>A	ENSP00000504727.1:p.Ala252Thr
ENST00000679098.1:c.754G>A	ENSP00000504303.1:p.Ala252Thr
ENST00000366782.5:c.853G>A	ENSP00000355746.1:p.Ala285Thr
ENST00000366783.7:c.754G>A	ENSP00000355747.3:p.Ala252Thr
ENST00000422240.6:c.754G>A	ENSP00000403737.2:p.Ala252Thr
ENST00000460775.5:c.235G>A	ENSP00000427912.1:p.Ala79Thr
ENST00000472139.2:c.322G>A	ENSP00000427806.1:p.Ala108Thr
ENST00000626989.2:c.853G>A	ENSP00000486498.1:p.Ala285Thr
NM_000447.2:c.754G>A	NP_000438.2:p.Ala252Thr
NM_012486.2:c.754G>A	NP_036618.2:p.Ala252Thr
XM_005273199.2:c.754G>A	XP_005273256.1:p.Ala252Thr
XM_011544236.1:c.322G>A	XP_011542538.1:p.Ala108Thr
XR_949149.1:n.1181G>A
XR_949150.1:n.1181G>A
XM_005273199.4:c.754G>A	XP_005273256.1:p.Ala252Thr
XM_017001835.1:c.754G>A	XP_016857324.1:p.Ala252Thr
XM_017001836.1:c.754G>A	XP_016857325.1:p.Ala252Thr
XR_001737316.2:n.1159G>A
XR_001737317.2:n.1159G>A
XR_001737318.2:n.1159G>A
XR_001737319.1:n.1502G>A
XR_001737320.1:n.1502G>A
XR_001737321.1:n.994G>A
XR_949149.2:n.1159G>A
XR_949150.3:n.1159G>A
NM_000447.3:c.754G>A MANE Select	NP_000438.2:p.Ala252Thr
NM_012486.3:c.754G>A	NP_036618.2:p.Ala252Thr