Canonical Allele Identifier: CA318223
Gene: SCN2A HGNC NCBI

Linked Data

ClinVar Variation Id: 207093
ClinVar RCV Id: RCV000189248
dbSNP Id: rs796053206

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.165310343_165310344delinsTT , CM000664.2:g.165310343_165310344delinsTT GRCh38
NC_000002.11:g.166166853_166166854delinsTT , CM000664.1:g.166166853_166166854delinsTT GRCh37
NC_000002.10:g.165875099_165875100delinsTT NCBI36
NG_008143.1:g.75942_75943delinsTT

Transcript Alleles

HGVS Amino-acid change
ENST00000631182.3:c.718_719delinsTT MANE Plus Clinical ENSP00000486885.1:p.Ala240Phe
ENST00000375437.7:c.718_719delinsTT MANE Select ENSP00000364586.2:p.Ala240Phe
ENST00000635945.1:n.1081_1082delinsTT
ENST00000636071.2:c.718_719delinsTT ENSP00000490107.1:p.Ala240Phe
ENST00000636135.1:c.589_590delinsTT ENSP00000489821.1:p.Ala197Phe
ENST00000636384.2:c.718_719delinsTT ENSP00000490765.1:p.Ala240Phe
ENST00000636662.2:c.*1241_*1242delinsTT ENSP00000489873.1:n.*1241_*1242delinsTT
ENST00000636769.1:c.718_719delinsTT ENSP00000490800.1:p.Ala240Phe
ENST00000636985.2:c.322_323delinsTT ENSP00000490849.1:p.Ala108Phe
ENST00000637266.2:c.718_719delinsTT ENSP00000490866.1:p.Ala240Phe
ENST00000637367.1:c.*651_*652delinsTT ENSP00000490592.1:n.*651_*652delinsTT
ENST00000638151.1:n.802_803delinsTT
ENST00000283256.10:c.718_719delinsTT ENSP00000283256.6:p.Ala240Phe
ENST00000375427.4:c.718_719delinsTT ENSP00000364576.2:p.Ala240Phe
ENST00000375437.6:c.718_719delinsTT ENSP00000364586.2:p.Ala240Phe
ENST00000424833.5:c.718_719delinsTT ENSP00000406454.2:p.Ala240Phe
ENST00000480032.4:n.861_862delinsTT
ENST00000486878.2:c.259_260delinsTT ENSP00000487466.1:p.Ala87Phe
ENST00000631182.2:c.718_719delinsTT ENSP00000486885.1:p.Ala240Phe
NM_001040142.1:c.718_719delinsTT NP_001035232.1:p.Ala240Phe
NM_001040143.1:c.718_719delinsTT NP_001035233.1:p.Ala240Phe
NM_021007.2:c.718_719delinsTT NP_066287.2:p.Ala240Phe
XM_005246750.2:c.718_719delinsTT XP_005246807.1:p.Ala240Phe
XM_005246753.2:c.718_719delinsTT XP_005246810.1:p.Ala240Phe
XM_005246754.3:c.688_689delinsTT XP_005246811.1:p.Ala230Phe
XM_005246755.3:c.-36_-35delinsTT XP_005246812.1:n.-36_-35delinsTT
XM_011511608.1:c.718_719delinsTT XP_011509910.1:p.Ala240Phe
XM_011511609.1:c.718_719delinsTT XP_011509911.1:p.Ala240Phe
XM_005246753.3:c.718_719delinsTT XP_005246810.1:p.Ala240Phe
XM_017004656.1:c.718_719delinsTT XP_016860145.1:p.Ala240Phe
XM_017004657.1:c.718_719delinsTT XP_016860146.1:p.Ala240Phe
XM_017004658.1:c.-36_-35delinsTT XP_016860147.1:n.-36_-35delinsTT
XM_024453037.1:c.-36_-35delinsTT XP_024308805.1:n.-36_-35delinsTT
NM_001040142.2:c.718_719delinsTT MANE Select NP_001035232.1:p.Ala240Phe
NM_001040143.2:c.718_719delinsTT NP_001035233.1:p.Ala240Phe
NM_001371246.1:c.718_719delinsTT MANE Plus Clinical NP_001358175.1:p.Ala240Phe
NM_001371247.1:c.718_719delinsTT NP_001358176.1:p.Ala240Phe
NM_021007.3:c.718_719delinsTT NP_066287.2:p.Ala240Phe