Canonical Allele Identifier: CA349020765
Gene: SCN2A HGNC NCBI

Linked Data

ClinVar Variation Id: 1342669
ClinVar RCV Id: RCV001847341
dbSNP Id: rs796053177
MyVariant Identifiers: chr2:g.166170203T>C (hg19) chr2:g.165313693T>C (hg38)
ERepo: CA349020765/MONDO:0100038/068
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.165313693T>C , CM000664.2:g.165313693T>C GRCh38
NC_000002.11:g.166170203T>C , CM000664.1:g.166170203T>C GRCh37
NC_000002.10:g.165878449T>C NCBI36
NG_008143.1:g.79292T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000631182.3:c.1108T>C MANE Plus Clinical ENSP00000486885.1:p.Phe370Leu
ENST00000375437.7:c.1108T>C MANE Select ENSP00000364586.2:p.Phe370Leu
ENST00000635945.1:n.1471T>C
ENST00000636071.2:c.1108T>C ENSP00000490107.1:p.Phe370Leu
ENST00000636135.1:c.979T>C ENSP00000489821.1:p.Phe327Leu
ENST00000636384.2:c.1108T>C ENSP00000490765.1:p.Phe370Leu
ENST00000636662.2:c.*1631T>C ENSP00000489873.1:n.*1631T>C
ENST00000636769.1:c.1108T>C ENSP00000490800.1:p.Phe370Leu
ENST00000636985.2:c.712T>C ENSP00000490849.1:p.Phe238Leu
ENST00000637266.2:c.1108T>C ENSP00000490866.1:p.Phe370Leu
ENST00000637367.1:c.*1041T>C ENSP00000490592.1:n.*1041T>C
ENST00000638151.1:n.1192T>C
ENST00000283256.10:c.1108T>C ENSP00000283256.6:p.Phe370Leu
ENST00000375427.4:c.1108T>C ENSP00000364576.2:p.Phe370Leu
ENST00000375437.6:c.1108T>C ENSP00000364586.2:p.Phe370Leu
ENST00000424833.5:c.1108T>C ENSP00000406454.2:p.Phe370Leu
ENST00000480032.4:n.1251T>C
ENST00000631182.2:c.1108T>C ENSP00000486885.1:p.Phe370Leu
NM_001040142.1:c.1108T>C NP_001035232.1:p.Phe370Leu
NM_001040143.1:c.1108T>C NP_001035233.1:p.Phe370Leu
NM_021007.2:c.1108T>C NP_066287.2:p.Phe370Leu
XM_005246750.2:c.1108T>C XP_005246807.1:p.Phe370Leu
XM_005246753.2:c.1108T>C XP_005246810.1:p.Phe370Leu
XM_005246754.3:c.1078T>C XP_005246811.1:p.Phe360Leu
XM_005246755.3:c.355T>C XP_005246812.1:p.Phe119Leu
XM_011511608.1:c.1108T>C XP_011509910.1:p.Phe370Leu
XM_011511609.1:c.1108T>C XP_011509911.1:p.Phe370Leu
XM_005246753.3:c.1108T>C XP_005246810.1:p.Phe370Leu
XM_017004656.1:c.1108T>C XP_016860145.1:p.Phe370Leu
XM_017004657.1:c.1108T>C XP_016860146.1:p.Phe370Leu
XM_017004658.1:c.355T>C XP_016860147.1:p.Phe119Leu
XM_024453037.1:c.355T>C XP_024308805.1:p.Phe119Leu
NM_001040142.2:c.1108T>C MANE Select NP_001035232.1:p.Phe370Leu
NM_001040143.2:c.1108T>C NP_001035233.1:p.Phe370Leu
NM_001371246.1:c.1108T>C MANE Plus Clinical NP_001358175.1:p.Phe370Leu
NM_001371247.1:c.1108T>C NP_001358176.1:p.Phe370Leu
NM_021007.3:c.1108T>C NP_066287.2:p.Phe370Leu
Search 100 bp 5'
Search 100 bp 3'