Canonical Allele Identifier: CA16617272
Gene: SCN2A HGNC NCBI

Linked Data

ClinVar Variation Id: 423770
ClinVar RCV Id: RCV000486948
dbSNP Id: rs1064796620

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.165388809del , CM000664.2:g.165388809del GRCh38
NC_000002.11:g.166245319del , CM000664.1:g.166245319del GRCh37
NC_000002.10:g.165953565del NCBI36
NG_008143.1:g.154408del

Transcript Alleles

HGVS Amino-acid change
ENST00000631182.3:c.5003del MANE Plus Clinical ENSP00000486885.1:p.Phe1668SerfsTer?
ENST00000375437.7:c.5003del MANE Select ENSP00000364586.2:p.Phe1668SerfsTer?
ENST00000636071.2:c.5003del ENSP00000490107.1:p.Phe1668SerfsTer?
ENST00000636135.1:c.*3322del ENSP00000489821.1:n.*3322del
ENST00000636384.2:c.*2990del ENSP00000490765.1:n.*2990del
ENST00000636662.2:c.*5526del ENSP00000489873.1:n.*5526del
ENST00000636769.1:c.*2945del ENSP00000490800.1:n.*2945del
ENST00000636985.2:c.4607del ENSP00000490849.1:p.Phe1536SerfsTer?
ENST00000637266.2:c.5003del ENSP00000490866.1:p.Phe1668SerfsTer?
ENST00000283256.10:c.5003del ENSP00000283256.6:p.Phe1668SerfsTer?
ENST00000375427.4:c.5003del ENSP00000364576.2:p.Phe1668SerfsTer?
ENST00000375437.6:c.5003del ENSP00000364586.2:p.Phe1668SerfsTer?
ENST00000480032.4:n.8434del
ENST00000631182.2:c.5003del ENSP00000486885.1:p.Phe1668SerfsTer?
NM_001040142.1:c.5003del NP_001035232.1:p.Phe1668SerfsTer?
NM_001040143.1:c.5003del NP_001035233.1:p.Phe1668SerfsTer?
NM_021007.2:c.5003del NP_066287.2:p.Phe1668SerfsTer?
XM_005246750.2:c.5003del XP_005246807.1:p.Phe1668SerfsTer?
XM_005246753.2:c.5003del XP_005246810.1:p.Phe1668SerfsTer?
XM_005246754.3:c.4973del XP_005246811.1:p.Phe1658SerfsTer?
XM_005246755.3:c.4250del XP_005246812.1:p.Phe1417SerfsTer?
XM_011511608.1:c.5003del XP_011509910.1:p.Phe1668SerfsTer?
XM_011511609.1:c.5003del XP_011509911.1:p.Phe1668SerfsTer?
XM_005246753.3:c.5003del XP_005246810.1:p.Phe1668SerfsTer?
XM_017004656.1:c.5003del XP_016860145.1:p.Phe1668SerfsTer?
XM_017004657.1:c.5003del XP_016860146.1:p.Phe1668SerfsTer?
XM_017004658.1:c.4250del XP_016860147.1:p.Phe1417SerfsTer?
XM_017004659.1:c.2801del XP_016860148.1:p.Phe934SerfsTer?
XM_024453037.1:c.4250del XP_024308805.1:p.Phe1417SerfsTer?
NM_001040142.2:c.5003del MANE Select NP_001035232.1:p.Phe1668SerfsTer?
NM_001040143.2:c.5003del NP_001035233.1:p.Phe1668SerfsTer?
NM_001371246.1:c.5003del MANE Plus Clinical NP_001358175.1:p.Phe1668SerfsTer?
NM_001371247.1:c.5003del NP_001358176.1:p.Phe1668SerfsTer?
NM_021007.3:c.5003del NP_066287.2:p.Phe1668SerfsTer?