Canonical Allele Identifier: CA318189
Gene: SCN2A HGNC NCBI

Linked Data

ClinVar Variation Id: 207081
ClinVar RCV Id: RCV000189236
dbSNP Id: rs796053198

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.165310333del , CM000664.2:g.165310333del GRCh38
NC_000002.11:g.166166843del , CM000664.1:g.166166843del GRCh37
NC_000002.10:g.165875089del NCBI36
NG_008143.1:g.75932del

Transcript Alleles

HGVS Amino-acid change
ENST00000631182.3:c.708del MANE Plus Clinical ENSP00000486885.1:p.Ile237LeufsTer5
ENST00000375437.7:c.708del MANE Select ENSP00000364586.2:p.Ile237LeufsTer5
ENST00000635945.1:n.1071del
ENST00000636071.2:c.708del ENSP00000490107.1:p.Ile237LeufsTer5
ENST00000636135.1:c.579del ENSP00000489821.1:p.Ile194LeufsTer5
ENST00000636384.2:c.708del ENSP00000490765.1:p.Ile237LeufsTer5
ENST00000636662.2:c.*1231del ENSP00000489873.1:n.*1231del
ENST00000636769.1:c.708del ENSP00000490800.1:p.Ile237LeufsTer5
ENST00000636985.2:c.312del ENSP00000490849.1:p.Ile105LeufsTer5
ENST00000637266.2:c.708del ENSP00000490866.1:p.Ile237LeufsTer5
ENST00000637367.1:c.*641del ENSP00000490592.1:n.*641del
ENST00000638151.1:n.792del
ENST00000283256.10:c.708del ENSP00000283256.6:p.Ile237LeufsTer5
ENST00000375427.4:c.708del ENSP00000364576.2:p.Ile237LeufsTer5
ENST00000375437.6:c.708del ENSP00000364586.2:p.Ile237LeufsTer5
ENST00000424833.5:c.708del ENSP00000406454.2:p.Ile237LeufsTer5
ENST00000480032.4:n.851del
ENST00000486878.2:c.249del ENSP00000487466.1:p.Ile84LeufsTer5
ENST00000631182.2:c.708del ENSP00000486885.1:p.Ile237LeufsTer5
NM_001040142.1:c.708del NP_001035232.1:p.Ile237LeufsTer5
NM_001040143.1:c.708del NP_001035233.1:p.Ile237LeufsTer5
NM_021007.2:c.708del NP_066287.2:p.Ile237LeufsTer5
XM_005246750.2:c.708del XP_005246807.1:p.Ile237LeufsTer5
XM_005246753.2:c.708del XP_005246810.1:p.Ile237LeufsTer5
XM_005246754.3:c.678del XP_005246811.1:p.Ile227LeufsTer5
XM_005246755.3:c.-46del XP_005246812.1:n.-46del
XM_011511608.1:c.708del XP_011509910.1:p.Ile237LeufsTer5
XM_011511609.1:c.708del XP_011509911.1:p.Ile237LeufsTer5
XM_005246753.3:c.708del XP_005246810.1:p.Ile237LeufsTer5
XM_017004656.1:c.708del XP_016860145.1:p.Ile237LeufsTer5
XM_017004657.1:c.708del XP_016860146.1:p.Ile237LeufsTer5
XM_017004658.1:c.-46del XP_016860147.1:n.-46del
XM_024453037.1:c.-46del XP_024308805.1:n.-46del
NM_001040142.2:c.708del MANE Select NP_001035232.1:p.Ile237LeufsTer5
NM_001040143.2:c.708del NP_001035233.1:p.Ile237LeufsTer5
NM_001371246.1:c.708del MANE Plus Clinical NP_001358175.1:p.Ile237LeufsTer5
NM_001371247.1:c.708del NP_001358176.1:p.Ile237LeufsTer5
NM_021007.3:c.708del NP_066287.2:p.Ile237LeufsTer5