Canonical Allele Identifier: CA224954
Gene: PSEN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 97996
ClinVar RCV Id: RCV000084263
dbSNP Id: rs63750812

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.226885623G>A , CM000663.2:g.226885623G>A GRCh38
NC_000001.10:g.227073324G>A , CM000663.1:g.227073324G>A GRCh37
NC_000001.9:g.225139947G>A NCBI36
NG_007381.1:g.20052G>A
NG_007381.2:g.20440G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000366779.6:c.442G>A ENSP00000355741.2:p.Val148Ile
ENST00000366782.6:c.442G>A ENSP00000355746.2:p.Val148Ile
ENST00000366783.8:c.442G>A MANE Select ENSP00000355747.3:p.Val148Ile
ENST00000524196.6:c.442G>A ENSP00000429036.2:p.Val148Ile
ENST00000626989.3:c.442G>A ENSP00000486498.2:p.Val148Ile
ENST00000676467.1:c.*272G>A ENSP00000504294.1:p.=
ENST00000676747.1:c.442G>A ENSP00000503244.1:p.Val148Ile
ENST00000676840.1:c.442G>A ENSP00000504318.1:p.Val148Ile
ENST00000676884.1:c.442G>A ENSP00000503200.1:p.Val148Ile
ENST00000676888.1:c.442G>A ENSP00000504483.1:p.Val148Ile
ENST00000676907.1:c.*21G>A ENSP00000504410.1:p.=
ENST00000676945.1:c.442G>A ENSP00000504433.1:p.Val148Ile
ENST00000677065.1:n.1003G>A
ENST00000677414.1:c.442G>A ENSP00000503116.1:p.Val148Ile
ENST00000677529.1:n.880G>A
ENST00000677596.1:c.*349G>A ENSP00000503618.1:p.=
ENST00000677599.1:c.442G>A ENSP00000503673.1:p.Val148Ile
ENST00000677748.1:n.880G>A
ENST00000677880.1:c.10G>A ENSP00000503121.1:p.Val4Ile
ENST00000678021.1:c.*65G>A ENSP00000504674.1:p.=
ENST00000678233.1:c.442G>A ENSP00000504728.1:p.Val148Ile
ENST00000678320.1:c.442G>A ENSP00000503680.1:p.Val148Ile
ENST00000678655.1:c.442G>A ENSP00000504230.1:p.Val148Ile
ENST00000678706.1:c.442G>A ENSP00000503659.1:p.Val148Ile
ENST00000678776.1:c.*272G>A ENSP00000504624.1:p.=
ENST00000678784.1:c.442G>A ENSP00000504652.1:p.Val148Ile
ENST00000678820.1:c.442G>A ENSP00000504138.1:p.Val148Ile
ENST00000678835.1:c.442G>A ENSP00000504343.1:p.Val148Ile
ENST00000679088.1:c.442G>A ENSP00000504727.1:p.Val148Ile
ENST00000679098.1:c.442G>A ENSP00000504303.1:p.Val148Ile
ENST00000366782.5:c.541G>A ENSP00000355746.1:p.Val181Ile
ENST00000366783.7:c.442G>A ENSP00000355747.3:p.Val148Ile
ENST00000422240.6:c.442G>A ENSP00000403737.2:p.Val148Ile
ENST00000460775.5:c.-21-2468G>A ENSP00000427912.1:p.=
ENST00000472139.2:c.10G>A ENSP00000427806.1:p.Val4Ile
ENST00000626989.2:n.541G>A ENSP00000486498.1:p.Val181Ile
NM_000447.2:c.442G>A NP_000438.2:p.Val148Ile
NM_012486.2:c.442G>A NP_036618.2:p.Val148Ile
XM_005273199.2:c.442G>A XP_005273256.1:p.Val148Ile
XM_011544236.1:c.10G>A XP_011542538.1:p.Val4Ile
XR_949149.1:n.869G>A
XR_949150.1:n.869G>A
XM_005273199.4:c.442G>A XP_005273256.1:p.Val148Ile
XM_017001835.1:c.442G>A XP_016857324.1:p.Val148Ile
XM_017001836.1:c.442G>A XP_016857325.1:p.Val148Ile
XR_001737316.2:n.847G>A
XR_001737317.2:n.847G>A
XR_001737318.2:n.847G>A
XR_001737319.1:n.1190G>A
XR_001737320.1:n.1190G>A
XR_001737321.1:n.682G>A
XR_949149.2:n.847G>A
XR_949150.3:n.847G>A
NM_000447.3:c.442G>A MANE Select NP_000438.2:p.Val148Ile
NM_012486.3:c.442G>A NP_036618.2:p.Val148Ile