Canonical Allele Identifier: CA122767
Gene: SCN2A HGNC NCBI

Linked Data

ClinVar Variation Id: 12875
dbSNP Id: rs121917748

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.165308751C>T , CM000664.2:g.165308751C>T GRCh38
NC_000002.11:g.166165261C>T , CM000664.1:g.166165261C>T GRCh37
NC_000002.10:g.165873507C>T NCBI36
NG_008143.1:g.74350C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000375437.7:c.562C>T MANE Select ENSP00000364586.2:p.Arg188Trp
ENST00000635945.1:n.925C>T
ENST00000636071.2:c.562C>T ENSP00000490107.1:p.Arg188Trp
ENST00000636135.1:c.477-601C>T ENSP00000489821.1:p.=
ENST00000636384.2:c.562C>T ENSP00000490765.1:p.Arg188Trp
ENST00000636662.2:c.*1085C>T ENSP00000489873.1:p.=
ENST00000636769.1:c.562C>T ENSP00000490800.1:p.Arg188Trp
ENST00000636985.2:c.166C>T ENSP00000490849.1:p.Arg56Trp
ENST00000637266.2:c.562C>T ENSP00000490866.1:p.Arg188Trp
ENST00000637367.1:c.*495C>T ENSP00000490592.1:p.=
ENST00000638151.1:n.646C>T
ENST00000283256.10:c.562C>T ENSP00000283256.6:p.Arg188Trp
ENST00000375427.4:c.562C>T ENSP00000364576.2:p.Arg188Trp
ENST00000375437.6:c.562C>T ENSP00000364586.2:p.Arg188Trp
ENST00000424833.5:c.562C>T ENSP00000406454.2:p.Arg188Trp
ENST00000480032.4:n.705C>T
ENST00000486878.2:n.103C>T ENSP00000487466.1:p.Arg35Trp
ENST00000631182.2:c.562C>T ENSP00000486885.1:p.Arg188Trp
NM_001040142.1:c.562C>T NP_001035232.1:p.Arg188Trp
NM_001040143.1:c.562C>T NP_001035233.1:p.Arg188Trp
NM_021007.2:c.562C>T NP_066287.2:p.Arg188Trp
XM_005246750.2:c.562C>T XP_005246807.1:p.Arg188Trp
XM_005246753.2:c.562C>T XP_005246810.1:p.Arg188Trp
XM_005246754.3:c.532C>T XP_005246811.1:p.Arg178Trp
XM_005246755.3:c.-100C>T XP_005246812.1:p.=
XM_011511608.1:c.562C>T XP_011509910.1:p.Arg188Trp
XM_011511609.1:c.562C>T XP_011509911.1:p.Arg188Trp
XM_005246753.3:c.562C>T XP_005246810.1:p.Arg188Trp
XM_017004656.1:c.562C>T XP_016860145.1:p.Arg188Trp
XM_017004657.1:c.562C>T XP_016860146.1:p.Arg188Trp
XM_017004658.1:c.-379C>T XP_016860147.1:p.=
XM_024453037.1:c.-100C>T XP_024308805.1:p.=
NM_001040142.2:c.562C>T MANE Select NP_001035232.1:p.Arg188Trp
NM_001040143.2:c.562C>T NP_001035233.1:p.Arg188Trp
NM_001371246.1:c.562C>T MANE Plus Clinical NP_001358175.1:p.Arg188Trp
NM_001371247.1:c.562C>T NP_001358176.1:p.Arg188Trp
NM_021007.3:c.562C>T NP_066287.2:p.Arg188Trp