Canonical Allele Identifier: CA423660704
Gene: PSEN2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.227073326C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.226885625C>G , CM000663.2:g.226885625C>G GRCh38
NC_000001.10:g.227073326C>G , CM000663.1:g.227073326C>G GRCh37
NC_000001.9:g.225139949C>G NCBI36
NG_007381.1:g.20054C>G
NG_007381.2:g.20442C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000366779.6:c.444C>G ENSP00000355741.2:p.Val148=
ENST00000366782.6:c.444C>G ENSP00000355746.2:p.Val148=
ENST00000366783.8:c.444C>G MANE Select ENSP00000355747.3:p.Val148=
ENST00000524196.6:c.444C>G ENSP00000429036.2:p.Val148=
ENST00000626989.3:c.444C>G ENSP00000486498.2:p.Val148=
ENST00000676467.1:c.*274C>G ENSP00000504294.1:p.=
ENST00000676747.1:c.444C>G ENSP00000503244.1:p.Val148=
ENST00000676840.1:c.444C>G ENSP00000504318.1:p.Val148=
ENST00000676884.1:c.444C>G ENSP00000503200.1:p.Val148=
ENST00000676888.1:c.444C>G ENSP00000504483.1:p.Val148=
ENST00000676907.1:c.*23C>G ENSP00000504410.1:p.=
ENST00000676945.1:c.444C>G ENSP00000504433.1:p.Val148=
ENST00000677065.1:n.1005C>G
ENST00000677414.1:c.444C>G ENSP00000503116.1:p.Val148=
ENST00000677529.1:n.882C>G
ENST00000677596.1:c.*351C>G ENSP00000503618.1:p.=
ENST00000677599.1:c.444C>G ENSP00000503673.1:p.Val148=
ENST00000677748.1:n.882C>G
ENST00000677880.1:c.12C>G ENSP00000503121.1:p.Val4=
ENST00000678021.1:c.*67C>G ENSP00000504674.1:p.=
ENST00000678233.1:c.444C>G ENSP00000504728.1:p.Val148=
ENST00000678320.1:c.444C>G ENSP00000503680.1:p.Val148=
ENST00000678655.1:c.444C>G ENSP00000504230.1:p.Val148=
ENST00000678706.1:c.444C>G ENSP00000503659.1:p.Val148=
ENST00000678776.1:c.*274C>G ENSP00000504624.1:p.=
ENST00000678784.1:c.444C>G ENSP00000504652.1:p.Val148=
ENST00000678820.1:c.444C>G ENSP00000504138.1:p.Val148=
ENST00000678835.1:c.444C>G ENSP00000504343.1:p.Val148=
ENST00000679088.1:c.444C>G ENSP00000504727.1:p.Val148=
ENST00000679098.1:c.444C>G ENSP00000504303.1:p.Val148=
ENST00000366782.5:c.543C>G ENSP00000355746.1:p.Val181=
ENST00000366783.7:c.444C>G ENSP00000355747.3:p.Val148=
ENST00000422240.6:c.444C>G ENSP00000403737.2:p.Val148=
ENST00000460775.5:c.-21-2466C>G ENSP00000427912.1:p.=
ENST00000472139.2:c.12C>G ENSP00000427806.1:p.Val4=
ENST00000626989.2:n.543C>G ENSP00000486498.1:p.Val181=
NM_000447.2:c.444C>G NP_000438.2:p.Val148=
NM_012486.2:c.444C>G NP_036618.2:p.Val148=
XM_005273199.2:c.444C>G XP_005273256.1:p.Val148=
XM_011544236.1:c.12C>G XP_011542538.1:p.Val4=
XR_949149.1:n.871C>G
XR_949150.1:n.871C>G
XM_005273199.4:c.444C>G XP_005273256.1:p.Val148=
XM_017001835.1:c.444C>G XP_016857324.1:p.Val148=
XM_017001836.1:c.444C>G XP_016857325.1:p.Val148=
XR_001737316.2:n.849C>G
XR_001737317.2:n.849C>G
XR_001737318.2:n.849C>G
XR_001737319.1:n.1192C>G
XR_001737320.1:n.1192C>G
XR_001737321.1:n.684C>G
XR_949149.2:n.849C>G
XR_949150.3:n.849C>G
NM_000447.3:c.444C>G MANE Select NP_000438.2:p.Val148=
NM_012486.3:c.444C>G NP_036618.2:p.Val148=