Canonical Allele Identifier: CA16617264
Gene: SCN2A HGNC NCBI

Linked Data

ClinVar Variation Id: 422960
ClinVar RCV Id: RCV000487214
dbSNP Id: rs1064796123
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.165314089_165314090delinsT , CM000664.2:g.165314089_165314090delinsT GRCh38
NC_000002.11:g.166170599_166170600delinsT , CM000664.1:g.166170599_166170600delinsT GRCh37
NC_000002.10:g.165878845_165878846delinsT NCBI36
NG_008143.1:g.79688_79689delinsT

Transcript Alleles

HGVS Amino-acid change
ENST00000631182.3:c.1364_1365delinsT MANE Plus Clinical ENSP00000486885.1:p.Lys455IlefsTer26
ENST00000375437.7:c.1364_1365delinsT MANE Select ENSP00000364586.2:p.Lys455IlefsTer26
ENST00000635945.1:n.1727_1728delinsT
ENST00000636071.2:c.1364_1365delinsT ENSP00000490107.1:p.Lys455IlefsTer26
ENST00000636135.1:c.1235_1236delinsT ENSP00000489821.1:p.Lys412IlefsTer26
ENST00000636384.2:c.1364_1365delinsT ENSP00000490765.1:p.Lys455IlefsTer26
ENST00000636662.2:c.*1887_*1888delinsT ENSP00000489873.1:n.*1887_*1888delinsT
ENST00000636769.1:c.1364_1365delinsT ENSP00000490800.1:p.Lys455IlefsTer26
ENST00000636985.2:c.968_969delinsT ENSP00000490849.1:p.Lys323IlefsTer26
ENST00000637266.2:c.1364_1365delinsT ENSP00000490866.1:p.Lys455IlefsTer26
ENST00000637367.1:c.*1297_*1298delinsT ENSP00000490592.1:n.*1297_*1298delinsT
ENST00000638151.1:n.1448_1449delinsT
ENST00000283256.10:c.1364_1365delinsT ENSP00000283256.6:p.Lys455IlefsTer26
ENST00000375427.4:c.1364_1365delinsT ENSP00000364576.2:p.Lys455IlefsTer26
ENST00000375437.6:c.1364_1365delinsT ENSP00000364586.2:p.Lys455IlefsTer26
ENST00000424833.5:c.1364_1365delinsT ENSP00000406454.2:p.Lys455IlefsTer26
ENST00000480032.4:n.1507_1508delinsT
ENST00000631182.2:c.1364_1365delinsT ENSP00000486885.1:p.Lys455IlefsTer26
NM_001040142.1:c.1364_1365delinsT NP_001035232.1:p.Lys455IlefsTer26
NM_001040143.1:c.1364_1365delinsT NP_001035233.1:p.Lys455IlefsTer26
NM_021007.2:c.1364_1365delinsT NP_066287.2:p.Lys455IlefsTer26
XM_005246750.2:c.1364_1365delinsT XP_005246807.1:p.Lys455IlefsTer26
XM_005246753.2:c.1364_1365delinsT XP_005246810.1:p.Lys455IlefsTer26
XM_005246754.3:c.1334_1335delinsT XP_005246811.1:p.Lys445IlefsTer26
XM_005246755.3:c.611_612delinsT XP_005246812.1:p.Lys204IlefsTer26
XM_011511608.1:c.1364_1365delinsT XP_011509910.1:p.Lys455IlefsTer26
XM_011511609.1:c.1364_1365delinsT XP_011509911.1:p.Lys455IlefsTer26
XM_005246753.3:c.1364_1365delinsT XP_005246810.1:p.Lys455IlefsTer26
XM_017004656.1:c.1364_1365delinsT XP_016860145.1:p.Lys455IlefsTer26
XM_017004657.1:c.1364_1365delinsT XP_016860146.1:p.Lys455IlefsTer26
XM_017004658.1:c.611_612delinsT XP_016860147.1:p.Lys204IlefsTer26
XM_024453037.1:c.611_612delinsT XP_024308805.1:p.Lys204IlefsTer26
NM_001040142.2:c.1364_1365delinsT MANE Select NP_001035232.1:p.Lys455IlefsTer26
NM_001040143.2:c.1364_1365delinsT NP_001035233.1:p.Lys455IlefsTer26
NM_001371246.1:c.1364_1365delinsT MANE Plus Clinical NP_001358175.1:p.Lys455IlefsTer26
NM_001371247.1:c.1364_1365delinsT NP_001358176.1:p.Lys455IlefsTer26
NM_021007.3:c.1364_1365delinsT NP_066287.2:p.Lys455IlefsTer26
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