Canonical Allele Identifier: CA122772
Gene: SCN2A HGNC NCBI

Linked Data

ClinVar Variation Id: 12879
ClinVar RCV Id: RCV000013739 RCV000810006 RCV001253574 RCV001847597 RCV002274897 RCV002319422
dbSNP Id: rs121917752
gnomAD v4: 2-165309414-G-A
MyVariant Identifiers: chr2:g.166165924G>A (hg19) chr2:g.165309414G>A (hg38)
PubMed: PMID:11326335 PMID:15048894
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.165309414G>A , CM000664.2:g.165309414G>A GRCh38
NC_000002.11:g.166165924G>A , CM000664.1:g.166165924G>A GRCh37
NC_000002.10:g.165874170G>A NCBI36
NG_008143.1:g.75013G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000631182.3:c.697+158G>A MANE Plus Clinical ENSP00000486885.1:n.697+158G>A
ENST00000375437.7:c.668G>A MANE Select ENSP00000364586.2:p.Arg223Gln
ENST00000635945.1:n.1031G>A
ENST00000636071.2:c.697+158G>A ENSP00000490107.1:n.697+158G>A
ENST00000636135.1:c.539G>A ENSP00000489821.1:p.Arg180Gln
ENST00000636384.2:c.668G>A ENSP00000490765.1:p.Arg223Gln
ENST00000636662.2:c.*1191G>A ENSP00000489873.1:n.*1191G>A
ENST00000636769.1:c.668G>A ENSP00000490800.1:p.Arg223Gln
ENST00000636985.2:c.272G>A ENSP00000490849.1:p.Arg91Gln
ENST00000637266.2:c.668G>A ENSP00000490866.1:p.Arg223Gln
ENST00000637367.1:c.*601G>A ENSP00000490592.1:n.*601G>A
ENST00000638151.1:n.752G>A
ENST00000283256.10:c.668G>A ENSP00000283256.6:p.Arg223Gln
ENST00000375427.4:c.697+158G>A ENSP00000364576.2:n.697+158G>A
ENST00000375437.6:c.668G>A ENSP00000364586.2:p.Arg223Gln
ENST00000424833.5:c.668G>A ENSP00000406454.2:p.Arg223Gln
ENST00000480032.4:n.811G>A
ENST00000486878.2:c.209G>A ENSP00000487466.1:p.Arg70Gln
ENST00000631182.2:c.697+158G>A ENSP00000486885.1:n.697+158G>A
NM_001040142.1:c.668G>A NP_001035232.1:p.Arg223Gln
NM_001040143.1:c.697+158G>A NP_001035233.1:n.697+158G>A
NM_021007.2:c.668G>A NP_066287.2:p.Arg223Gln
XM_005246750.2:c.668G>A XP_005246807.1:p.Arg223Gln
XM_005246753.2:c.697+158G>A XP_005246810.1:n.697+158G>A
XM_005246754.3:c.638G>A XP_005246811.1:p.Arg213Gln
XM_005246755.3:c.-57+620G>A XP_005246812.1:n.-57+620G>A
XM_011511608.1:c.668G>A XP_011509910.1:p.Arg223Gln
XM_011511609.1:c.668G>A XP_011509911.1:p.Arg223Gln
XM_005246753.3:c.697+158G>A XP_005246810.1:n.697+158G>A
XM_017004656.1:c.668G>A XP_016860145.1:p.Arg223Gln
XM_017004657.1:c.697+158G>A XP_016860146.1:n.697+158G>A
XM_017004658.1:c.-86G>A XP_016860147.1:n.-86G>A
XM_024453037.1:c.-57+620G>A XP_024308805.1:n.-57+620G>A
NM_001040142.2:c.668G>A MANE Select NP_001035232.1:p.Arg223Gln
NM_001040143.2:c.697+158G>A NP_001035233.1:n.697+158G>A
NM_001371246.1:c.697+158G>A MANE Plus Clinical NP_001358175.1:n.697+158G>A
NM_001371247.1:c.668G>A NP_001358176.1:p.Arg223Gln
NM_021007.3:c.668G>A NP_066287.2:p.Arg223Gln
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