Canonical Allele Identifier: CA16617263
Gene: SCN2A HGNC NCBI

Linked Data

ClinVar Variation Id: 421470
ClinVar RCV Id: RCV000478420
dbSNP Id: rs1064795159
MyVariant Identifiers: chr2:g.166170539C>T (hg19) chr2:g.165314029C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.165314029C>T , CM000664.2:g.165314029C>T GRCh38
NC_000002.11:g.166170539C>T , CM000664.1:g.166170539C>T GRCh37
NC_000002.10:g.165878785C>T NCBI36
NG_008143.1:g.79628C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000631182.3:c.1304C>T MANE Plus Clinical ENSP00000486885.1:p.Thr435Ile
ENST00000375437.7:c.1304C>T MANE Select ENSP00000364586.2:p.Thr435Ile
ENST00000635945.1:n.1667C>T
ENST00000636071.2:c.1304C>T ENSP00000490107.1:p.Thr435Ile
ENST00000636135.1:c.1175C>T ENSP00000489821.1:p.Thr392Ile
ENST00000636384.2:c.1304C>T ENSP00000490765.1:p.Thr435Ile
ENST00000636662.2:c.*1827C>T ENSP00000489873.1:n.*1827C>T
ENST00000636769.1:c.1304C>T ENSP00000490800.1:p.Thr435Ile
ENST00000636985.2:c.908C>T ENSP00000490849.1:p.Thr303Ile
ENST00000637266.2:c.1304C>T ENSP00000490866.1:p.Thr435Ile
ENST00000637367.1:c.*1237C>T ENSP00000490592.1:n.*1237C>T
ENST00000638151.1:n.1388C>T
ENST00000283256.10:c.1304C>T ENSP00000283256.6:p.Thr435Ile
ENST00000375427.4:c.1304C>T ENSP00000364576.2:p.Thr435Ile
ENST00000375437.6:c.1304C>T ENSP00000364586.2:p.Thr435Ile
ENST00000424833.5:c.1304C>T ENSP00000406454.2:p.Thr435Ile
ENST00000480032.4:n.1447C>T
ENST00000631182.2:c.1304C>T ENSP00000486885.1:p.Thr435Ile
NM_001040142.1:c.1304C>T NP_001035232.1:p.Thr435Ile
NM_001040143.1:c.1304C>T NP_001035233.1:p.Thr435Ile
NM_021007.2:c.1304C>T NP_066287.2:p.Thr435Ile
XM_005246750.2:c.1304C>T XP_005246807.1:p.Thr435Ile
XM_005246753.2:c.1304C>T XP_005246810.1:p.Thr435Ile
XM_005246754.3:c.1274C>T XP_005246811.1:p.Thr425Ile
XM_005246755.3:c.551C>T XP_005246812.1:p.Thr184Ile
XM_011511608.1:c.1304C>T XP_011509910.1:p.Thr435Ile
XM_011511609.1:c.1304C>T XP_011509911.1:p.Thr435Ile
XM_005246753.3:c.1304C>T XP_005246810.1:p.Thr435Ile
XM_017004656.1:c.1304C>T XP_016860145.1:p.Thr435Ile
XM_017004657.1:c.1304C>T XP_016860146.1:p.Thr435Ile
XM_017004658.1:c.551C>T XP_016860147.1:p.Thr184Ile
XM_024453037.1:c.551C>T XP_024308805.1:p.Thr184Ile
NM_001040142.2:c.1304C>T MANE Select NP_001035232.1:p.Thr435Ile
NM_001040143.2:c.1304C>T NP_001035233.1:p.Thr435Ile
NM_001371246.1:c.1304C>T MANE Plus Clinical NP_001358175.1:p.Thr435Ile
NM_001371247.1:c.1304C>T NP_001358176.1:p.Thr435Ile
NM_021007.3:c.1304C>T NP_066287.2:p.Thr435Ile
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