Canonical Allele Identifier: CA10584039
Gene: SCN2A HGNC NCBI

Linked Data

ClinVar Variation Id: 242977
ClinVar RCV Id: RCV000234961
dbSNP Id: rs879253767
MyVariant Identifiers: chr2:g.166170249del (hg19) chr2:g.165313739del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.165313739del , CM000664.2:g.165313739del GRCh38
NC_000002.11:g.166170249del , CM000664.1:g.166170249del GRCh37
NC_000002.10:g.165878495del NCBI36
NG_008143.1:g.79338del

Transcript Alleles

HGVS Amino-acid change
ENST00000631182.3:c.1154del MANE Plus Clinical ENSP00000486885.1:p.Phe385SerfsTer8
ENST00000375437.7:c.1154del MANE Select ENSP00000364586.2:p.Phe385SerfsTer8
ENST00000635945.1:n.1517del
ENST00000636071.2:c.1154del ENSP00000490107.1:p.Phe385SerfsTer8
ENST00000636135.1:c.1025del ENSP00000489821.1:p.Phe342SerfsTer8
ENST00000636384.2:c.1154del ENSP00000490765.1:p.Phe385SerfsTer8
ENST00000636662.2:c.*1677del ENSP00000489873.1:n.*1677del
ENST00000636769.1:c.1154del ENSP00000490800.1:p.Phe385SerfsTer8
ENST00000636985.2:c.758del ENSP00000490849.1:p.Phe253SerfsTer8
ENST00000637266.2:c.1154del ENSP00000490866.1:p.Phe385SerfsTer8
ENST00000637367.1:c.*1087del ENSP00000490592.1:n.*1087del
ENST00000638151.1:n.1238del
ENST00000283256.10:c.1154del ENSP00000283256.6:p.Phe385SerfsTer8
ENST00000375427.4:c.1154del ENSP00000364576.2:p.Phe385SerfsTer8
ENST00000375437.6:c.1154del ENSP00000364586.2:p.Phe385SerfsTer8
ENST00000424833.5:c.1154del ENSP00000406454.2:p.Phe385SerfsTer8
ENST00000480032.4:n.1297del
ENST00000631182.2:c.1154del ENSP00000486885.1:p.Phe385SerfsTer8
NM_001040142.1:c.1154del NP_001035232.1:p.Phe385SerfsTer8
NM_001040143.1:c.1154del NP_001035233.1:p.Phe385SerfsTer8
NM_021007.2:c.1154del NP_066287.2:p.Phe385SerfsTer8
XM_005246750.2:c.1154del XP_005246807.1:p.Phe385SerfsTer8
XM_005246753.2:c.1154del XP_005246810.1:p.Phe385SerfsTer8
XM_005246754.3:c.1124del XP_005246811.1:p.Phe375SerfsTer8
XM_005246755.3:c.401del XP_005246812.1:p.Phe134SerfsTer8
XM_011511608.1:c.1154del XP_011509910.1:p.Phe385SerfsTer8
XM_011511609.1:c.1154del XP_011509911.1:p.Phe385SerfsTer8
XM_005246753.3:c.1154del XP_005246810.1:p.Phe385SerfsTer8
XM_017004656.1:c.1154del XP_016860145.1:p.Phe385SerfsTer8
XM_017004657.1:c.1154del XP_016860146.1:p.Phe385SerfsTer8
XM_017004658.1:c.401del XP_016860147.1:p.Phe134SerfsTer8
XM_024453037.1:c.401del XP_024308805.1:p.Phe134SerfsTer8
NM_001040142.2:c.1154del MANE Select NP_001035232.1:p.Phe385SerfsTer8
NM_001040143.2:c.1154del NP_001035233.1:p.Phe385SerfsTer8
NM_001371246.1:c.1154del MANE Plus Clinical NP_001358175.1:p.Phe385SerfsTer8
NM_001371247.1:c.1154del NP_001358176.1:p.Phe385SerfsTer8
NM_021007.3:c.1154del NP_066287.2:p.Phe385SerfsTer8
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