Canonical Allele Identifier: CA122775
Gene: SCN2A HGNC NCBI

Linked Data

ClinVar Variation Id: 12881
ClinVar RCV Id: RCV000013741 RCV001217344
dbSNP Id: rs121917754
COSMIC: COSM1008606 COSM1008607
MyVariant Identifiers: chr2:g.166210789C>A (hg19) chr2:g.165354279C>A (hg38)
PubMed: PMID:15048894
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.165354279C>A , CM000664.2:g.165354279C>A GRCh38
NC_000002.11:g.166210789C>A , CM000664.1:g.166210789C>A GRCh37
NC_000002.10:g.165919035C>A NCBI36
NG_008143.1:g.119878C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000631182.3:c.3007C>A MANE Plus Clinical ENSP00000486885.1:p.Leu1003Ile
ENST00000375437.7:c.3007C>A MANE Select ENSP00000364586.2:p.Leu1003Ile
ENST00000636071.2:c.3007C>A ENSP00000490107.1:p.Leu1003Ile
ENST00000636135.1:c.*1326C>A ENSP00000489821.1:n.*1326C>A
ENST00000636384.2:c.*994C>A ENSP00000490765.1:n.*994C>A
ENST00000636662.2:c.*3530C>A ENSP00000489873.1:n.*3530C>A
ENST00000636769.1:c.*949C>A ENSP00000490800.1:n.*949C>A
ENST00000636985.2:c.2611C>A ENSP00000490849.1:p.Leu871Ile
ENST00000637266.2:c.3007C>A ENSP00000490866.1:p.Leu1003Ile
ENST00000673831.1:c.753C>A ENSP00000501305.1:n.753C>A
ENST00000673883.1:c.572C>A ENSP00000501309.1:n.572C>A
ENST00000674133.1:c.858C>A
ENST00000283256.10:c.3007C>A ENSP00000283256.6:p.Leu1003Ile
ENST00000375427.4:c.3007C>A ENSP00000364576.2:p.Leu1003Ile
ENST00000375437.6:c.3007C>A ENSP00000364586.2:p.Leu1003Ile
ENST00000480032.4:n.3150C>A
ENST00000631182.2:c.3007C>A ENSP00000486885.1:p.Leu1003Ile
NM_001040142.1:c.3007C>A NP_001035232.1:p.Leu1003Ile
NM_001040143.1:c.3007C>A NP_001035233.1:p.Leu1003Ile
NM_021007.2:c.3007C>A NP_066287.2:p.Leu1003Ile
XM_005246750.2:c.3007C>A XP_005246807.1:p.Leu1003Ile
XM_005246753.2:c.3007C>A XP_005246810.1:p.Leu1003Ile
XM_005246754.3:c.2977C>A XP_005246811.1:p.Leu993Ile
XM_005246755.3:c.2254C>A XP_005246812.1:p.Leu752Ile
XM_011511608.1:c.3007C>A XP_011509910.1:p.Leu1003Ile
XM_011511609.1:c.3007C>A XP_011509911.1:p.Leu1003Ile
XM_005246753.3:c.3007C>A XP_005246810.1:p.Leu1003Ile
XM_017004656.1:c.3007C>A XP_016860145.1:p.Leu1003Ile
XM_017004657.1:c.3007C>A XP_016860146.1:p.Leu1003Ile
XM_017004658.1:c.2254C>A XP_016860147.1:p.Leu752Ile
XM_017004659.1:c.805C>A XP_016860148.1:p.Leu269Ile
XM_024453037.1:c.2254C>A XP_024308805.1:p.Leu752Ile
NM_001040142.2:c.3007C>A MANE Select NP_001035232.1:p.Leu1003Ile
NM_001040143.2:c.3007C>A NP_001035233.1:p.Leu1003Ile
NM_001371246.1:c.3007C>A MANE Plus Clinical NP_001358175.1:p.Leu1003Ile
NM_001371247.1:c.3007C>A NP_001358176.1:p.Leu1003Ile
NM_021007.3:c.3007C>A NP_066287.2:p.Leu1003Ile
Search 100 bp 5'
Search 100 bp 3'