Canonical Allele Identifier: CA16043608
Gene: SCN2A HGNC NCBI

Linked Data

ClinVar Variation Id: 374249
ClinVar RCV Id: RCV000415077
dbSNP Id: rs1057519010
MyVariant Identifiers: chr2:g.166231285_166231297del (hg19) chr2:g.165374775_165374787del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.165374775_165374787del , CM000664.2:g.165374775_165374787del GRCh38
NC_000002.11:g.166231285_166231297del , CM000664.1:g.166231285_166231297del GRCh37
NC_000002.10:g.165939531_165939543del NCBI36
NG_008143.1:g.140374_140386del

Transcript Alleles

HGVS Amino-acid change
ENST00000631182.3:c.4063_4075del MANE Plus Clinical ENSP00000486885.1:p.Gly1355LeufsTer19
ENST00000375437.7:c.4063_4075del MANE Select ENSP00000364586.2:p.Gly1355LeufsTer19
ENST00000636071.2:c.4063_4075del ENSP00000490107.1:p.Gly1355LeufsTer19
ENST00000636135.1:c.*2382_*2394del ENSP00000489821.1:n.*2382_*2394del
ENST00000636384.2:c.*2050_*2062del ENSP00000490765.1:n.*2050_*2062del
ENST00000636662.2:c.*4586_*4598del ENSP00000489873.1:n.*4586_*4598del
ENST00000636769.1:c.*2005_*2017del ENSP00000490800.1:n.*2005_*2017del
ENST00000636985.2:c.3667_3679del ENSP00000490849.1:p.Gly1223LeufsTer19
ENST00000637266.2:c.4063_4075del ENSP00000490866.1:p.Gly1355LeufsTer19
ENST00000283256.10:c.4063_4075del ENSP00000283256.6:p.Gly1355LeufsTer19
ENST00000375427.4:c.4063_4075del ENSP00000364576.2:p.Gly1355LeufsTer19
ENST00000375437.6:c.4063_4075del ENSP00000364586.2:p.Gly1355LeufsTer19
ENST00000480032.4:n.7131_7143del
ENST00000631182.2:c.4063_4075del ENSP00000486885.1:p.Gly1355LeufsTer19
NM_001040142.1:c.4063_4075del NP_001035232.1:p.Gly1355LeufsTer19
NM_001040143.1:c.4063_4075del NP_001035233.1:p.Gly1355LeufsTer19
NM_021007.2:c.4063_4075del NP_066287.2:p.Gly1355LeufsTer19
XM_005246750.2:c.4063_4075del XP_005246807.1:p.Gly1355LeufsTer19
XM_005246753.2:c.4063_4075del XP_005246810.1:p.Gly1355LeufsTer19
XM_005246754.3:c.4033_4045del XP_005246811.1:p.Gly1345LeufsTer19
XM_005246755.3:c.3310_3322del XP_005246812.1:p.Gly1104LeufsTer19
XM_011511608.1:c.4063_4075del XP_011509910.1:p.Gly1355LeufsTer19
XM_011511609.1:c.4063_4075del XP_011509911.1:p.Gly1355LeufsTer19
XM_005246753.3:c.4063_4075del XP_005246810.1:p.Gly1355LeufsTer19
XM_017004656.1:c.4063_4075del XP_016860145.1:p.Gly1355LeufsTer19
XM_017004657.1:c.4063_4075del XP_016860146.1:p.Gly1355LeufsTer19
XM_017004658.1:c.3310_3322del XP_016860147.1:p.Gly1104LeufsTer19
XM_017004659.1:c.1861_1873del XP_016860148.1:p.Gly621LeufsTer19
XM_024453037.1:c.3310_3322del XP_024308805.1:p.Gly1104LeufsTer19
NM_001040142.2:c.4063_4075del MANE Select NP_001035232.1:p.Gly1355LeufsTer19
NM_001040143.2:c.4063_4075del NP_001035233.1:p.Gly1355LeufsTer19
NM_001371246.1:c.4063_4075del MANE Plus Clinical NP_001358175.1:p.Gly1355LeufsTer19
NM_001371247.1:c.4063_4075del NP_001358176.1:p.Gly1355LeufsTer19
NM_021007.3:c.4063_4075del NP_066287.2:p.Gly1355LeufsTer19
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