Canonical Allele Identifier: CA16617270
Gene: SCN2A HGNC NCBI

Linked Data

ClinVar Variation Id: 420835
ClinVar RCV Id: RCV000479221 RCV002272253
dbSNP Id: rs1064794730
MyVariant Identifiers: chr2:g.166245219C>T (hg19) chr2:g.165388709C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.165388709C>T , CM000664.2:g.165388709C>T GRCh38
NC_000002.11:g.166245219C>T , CM000664.1:g.166245219C>T GRCh37
NC_000002.10:g.165953465C>T NCBI36
NG_008143.1:g.154308C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000631182.3:c.4903C>T MANE Plus Clinical ENSP00000486885.1:p.Arg1635Ter
ENST00000375437.7:c.4903C>T MANE Select ENSP00000364586.2:p.Arg1635Ter
ENST00000636071.2:c.4903C>T ENSP00000490107.1:p.Arg1635Ter
ENST00000636135.1:c.*3222C>T ENSP00000489821.1:n.*3222C>T
ENST00000636384.2:c.*2890C>T ENSP00000490765.1:n.*2890C>T
ENST00000636662.2:c.*5426C>T ENSP00000489873.1:n.*5426C>T
ENST00000636769.1:c.*2845C>T ENSP00000490800.1:n.*2845C>T
ENST00000636985.2:c.4507C>T ENSP00000490849.1:p.Arg1503Ter
ENST00000637266.2:c.4903C>T ENSP00000490866.1:p.Arg1635Ter
ENST00000283256.10:c.4903C>T ENSP00000283256.6:p.Arg1635Ter
ENST00000375427.4:c.4903C>T ENSP00000364576.2:p.Arg1635Ter
ENST00000375437.6:c.4903C>T ENSP00000364586.2:p.Arg1635Ter
ENST00000480032.4:n.8334C>T
ENST00000631182.2:c.4903C>T ENSP00000486885.1:p.Arg1635Ter
NM_001040142.1:c.4903C>T NP_001035232.1:p.Arg1635Ter
NM_001040143.1:c.4903C>T NP_001035233.1:p.Arg1635Ter
NM_021007.2:c.4903C>T NP_066287.2:p.Arg1635Ter
XM_005246750.2:c.4903C>T XP_005246807.1:p.Arg1635Ter
XM_005246753.2:c.4903C>T XP_005246810.1:p.Arg1635Ter
XM_005246754.3:c.4873C>T XP_005246811.1:p.Arg1625Ter
XM_005246755.3:c.4150C>T XP_005246812.1:p.Arg1384Ter
XM_011511608.1:c.4903C>T XP_011509910.1:p.Arg1635Ter
XM_011511609.1:c.4903C>T XP_011509911.1:p.Arg1635Ter
XM_005246753.3:c.4903C>T XP_005246810.1:p.Arg1635Ter
XM_017004656.1:c.4903C>T XP_016860145.1:p.Arg1635Ter
XM_017004657.1:c.4903C>T XP_016860146.1:p.Arg1635Ter
XM_017004658.1:c.4150C>T XP_016860147.1:p.Arg1384Ter
XM_017004659.1:c.2701C>T XP_016860148.1:p.Arg901Ter
XM_024453037.1:c.4150C>T XP_024308805.1:p.Arg1384Ter
NM_001040142.2:c.4903C>T MANE Select NP_001035232.1:p.Arg1635Ter
NM_001040143.2:c.4903C>T NP_001035233.1:p.Arg1635Ter
NM_001371246.1:c.4903C>T MANE Plus Clinical NP_001358175.1:p.Arg1635Ter
NM_001371247.1:c.4903C>T NP_001358176.1:p.Arg1635Ter
NM_021007.3:c.4903C>T NP_066287.2:p.Arg1635Ter
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