Canonical Allele Identifier: CA16604013
Gene: SCN2A HGNC NCBI

Linked Data

ClinVar Variation Id: 390254
ClinVar RCV Id: RCV000422689
dbSNP Id: rs1057523696
MyVariant Identifiers: chr2:g.166201377T>C (hg19) chr2:g.165344867T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.165344867T>C , CM000664.2:g.165344867T>C GRCh38
NC_000002.11:g.166201377T>C , CM000664.1:g.166201377T>C GRCh37
NC_000002.10:g.165909623T>C NCBI36
NG_008143.1:g.110466T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000631182.3:c.2875T>C MANE Plus Clinical ENSP00000486885.1:p.Cys959Arg
ENST00000375437.7:c.2875T>C MANE Select ENSP00000364586.2:p.Cys959Arg
ENST00000636071.2:c.2875T>C ENSP00000490107.1:p.Cys959Arg
ENST00000636135.1:c.*1194T>C ENSP00000489821.1:n.*1194T>C
ENST00000636384.2:c.*862T>C ENSP00000490765.1:n.*862T>C
ENST00000636662.2:c.*3398T>C ENSP00000489873.1:n.*3398T>C
ENST00000636769.1:c.*817T>C ENSP00000490800.1:n.*817T>C
ENST00000636985.2:c.2479T>C ENSP00000490849.1:p.Cys827Arg
ENST00000637266.2:c.2875T>C ENSP00000490866.1:p.Cys959Arg
ENST00000673831.1:c.313T>C ENSP00000501305.1:p.Cys105Arg
ENST00000673883.1:c.313T>C ENSP00000501309.1:p.Cys105Arg
ENST00000674133.1:c.726T>C
ENST00000283256.10:c.2875T>C ENSP00000283256.6:p.Cys959Arg
ENST00000375427.4:c.2875T>C ENSP00000364576.2:p.Cys959Arg
ENST00000375437.6:c.2875T>C ENSP00000364586.2:p.Cys959Arg
ENST00000480032.4:n.3018T>C
ENST00000631182.2:c.2875T>C ENSP00000486885.1:p.Cys959Arg
NM_001040142.1:c.2875T>C NP_001035232.1:p.Cys959Arg
NM_001040143.1:c.2875T>C NP_001035233.1:p.Cys959Arg
NM_021007.2:c.2875T>C NP_066287.2:p.Cys959Arg
XM_005246750.2:c.2875T>C XP_005246807.1:p.Cys959Arg
XM_005246753.2:c.2875T>C XP_005246810.1:p.Cys959Arg
XM_005246754.3:c.2845T>C XP_005246811.1:p.Cys949Arg
XM_005246755.3:c.2122T>C XP_005246812.1:p.Cys708Arg
XM_011511608.1:c.2875T>C XP_011509910.1:p.Cys959Arg
XM_011511609.1:c.2875T>C XP_011509911.1:p.Cys959Arg
XM_005246753.3:c.2875T>C XP_005246810.1:p.Cys959Arg
XM_017004656.1:c.2875T>C XP_016860145.1:p.Cys959Arg
XM_017004657.1:c.2875T>C XP_016860146.1:p.Cys959Arg
XM_017004658.1:c.2122T>C XP_016860147.1:p.Cys708Arg
XM_017004659.1:c.673T>C XP_016860148.1:p.Cys225Arg
XM_024453037.1:c.2122T>C XP_024308805.1:p.Cys708Arg
NM_001040142.2:c.2875T>C MANE Select NP_001035232.1:p.Cys959Arg
NM_001040143.2:c.2875T>C NP_001035233.1:p.Cys959Arg
NM_001371246.1:c.2875T>C MANE Plus Clinical NP_001358175.1:p.Cys959Arg
NM_001371247.1:c.2875T>C NP_001358176.1:p.Cys959Arg
NM_021007.3:c.2875T>C NP_066287.2:p.Cys959Arg
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