Canonical Allele Identifier: CA16043650
Gene: SCN2A HGNC NCBI

Linked Data

ClinVar Variation Id: 374268
ClinVar RCV Id: RCV000414894
dbSNP Id: rs1057518658
MyVariant Identifiers: chr2:g.166187919_166187920del (hg19) chr2:g.165331409_165331410del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.165331409_165331410del , CM000664.2:g.165331409_165331410del GRCh38
NC_000002.11:g.166187919_166187920del , CM000664.1:g.166187919_166187920del GRCh37
NC_000002.10:g.165896165_165896166del NCBI36
NG_008143.1:g.97008_97009del

Transcript Alleles

HGVS Amino-acid change
ENST00000631182.3:c.2229_2230del MANE Plus Clinical ENSP00000486885.1:p.Lys743AsnfsTer19
ENST00000375437.7:c.2229_2230del MANE Select ENSP00000364586.2:p.Lys743AsnfsTer19
ENST00000636071.2:c.2229_2230del ENSP00000490107.1:p.Lys743AsnfsTer19
ENST00000636135.1:c.*548_*549del ENSP00000489821.1:n.*548_*549del
ENST00000636384.2:c.*216_*217del ENSP00000490765.1:n.*216_*217del
ENST00000636662.2:c.*2752_*2753del ENSP00000489873.1:n.*2752_*2753del
ENST00000636769.1:c.*171_*172del ENSP00000490800.1:n.*171_*172del
ENST00000636985.2:c.1833_1834del ENSP00000490849.1:p.Lys611AsnfsTer19
ENST00000637266.2:c.2229_2230del ENSP00000490866.1:p.Lys743AsnfsTer19
ENST00000637367.1:c.*3716_*3717del ENSP00000490592.1:n.*3716_*3717del
ENST00000674133.1:c.80_81del
ENST00000283256.10:c.2229_2230del ENSP00000283256.6:p.Lys743AsnfsTer19
ENST00000375427.4:c.2229_2230del ENSP00000364576.2:p.Lys743AsnfsTer19
ENST00000375437.6:c.2229_2230del ENSP00000364586.2:p.Lys743AsnfsTer19
ENST00000480032.4:n.2372_2373del
ENST00000631182.2:c.2229_2230del ENSP00000486885.1:p.Lys743AsnfsTer19
NM_001040142.1:c.2229_2230del NP_001035232.1:p.Lys743AsnfsTer19
NM_001040143.1:c.2229_2230del NP_001035233.1:p.Lys743AsnfsTer19
NM_021007.2:c.2229_2230del NP_066287.2:p.Lys743AsnfsTer19
XM_005246750.2:c.2229_2230del XP_005246807.1:p.Lys743AsnfsTer19
XM_005246753.2:c.2229_2230del XP_005246810.1:p.Lys743AsnfsTer19
XM_005246754.3:c.2199_2200del XP_005246811.1:p.Lys733AsnfsTer19
XM_005246755.3:c.1476_1477del XP_005246812.1:p.Lys492AsnfsTer19
XM_011511608.1:c.2229_2230del XP_011509910.1:p.Lys743AsnfsTer19
XM_011511609.1:c.2229_2230del XP_011509911.1:p.Lys743AsnfsTer19
XM_005246753.3:c.2229_2230del XP_005246810.1:p.Lys743AsnfsTer19
XM_017004656.1:c.2229_2230del XP_016860145.1:p.Lys743AsnfsTer19
XM_017004657.1:c.2229_2230del XP_016860146.1:p.Lys743AsnfsTer19
XM_017004658.1:c.1476_1477del XP_016860147.1:p.Lys492AsnfsTer19
XM_017004659.1:c.27_28del XP_016860148.1:p.Lys9AsnfsTer19
XM_024453037.1:c.1476_1477del XP_024308805.1:p.Lys492AsnfsTer19
NM_001040142.2:c.2229_2230del MANE Select NP_001035232.1:p.Lys743AsnfsTer19
NM_001040143.2:c.2229_2230del NP_001035233.1:p.Lys743AsnfsTer19
NM_001371246.1:c.2229_2230del MANE Plus Clinical NP_001358175.1:p.Lys743AsnfsTer19
NM_001371247.1:c.2229_2230del NP_001358176.1:p.Lys743AsnfsTer19
NM_021007.3:c.2229_2230del NP_066287.2:p.Lys743AsnfsTer19
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