Canonical Allele Identifier: CA1304544242
Community Standard Title: NM_001040142.2(SCN2A):c.2558G= (p.Arg853=)
Gene: SCN2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.165342465G= , CM000664.2:g.165342465G= GRCh38
NC_000002.11:g.166198975G= , CM000664.1:g.166198975G= GRCh37
NC_000002.10:g.165907221G= NCBI36
NG_008143.1:g.108064G=

Transcript Alleles

HGVS Amino-acid Change
NM_001040142.2:c.2558G= MANE Select NP_001035232.1:p.Arg853=
ENST00000375437.7:c.2558G= MANE Select ENSP00000364586.2:p.Arg853=
NM_001371246.1:c.2558G= MANE Plus Clinical NP_001358175.1:p.Arg853=
ENST00000631182.3:c.2558G= MANE Plus Clinical ENSP00000486885.1:p.Arg853=
NM_001040142.1:c.2558G= NP_001035232.1:p.Arg853=
NM_001040143.1:c.2558G= NP_001035233.1:p.Arg853=
NM_001040143.2:c.2558G= NP_001035233.1:p.Arg853=
NM_001371247.1:c.2558G= NP_001358176.1:p.Arg853=
NM_021007.2:c.2558G= NP_066287.2:p.Arg853=
NM_021007.3:c.2558G= NP_066287.2:p.Arg853=
ENST00000283256.10:c.2558G= ENSP00000283256.6:p.Arg853=
ENST00000375427.4:c.2558G= ENSP00000364576.2:p.Arg853=
ENST00000375437.6:c.2558G= ENSP00000364586.2:p.Arg853=
ENST00000480032.4:n.2701G=
ENST00000631182.2:c.2558G= ENSP00000486885.1:p.Arg853=
ENST00000636071.2:c.2558G= ENSP00000490107.1:p.Arg853=
ENST00000636135.1:c.*877G= ENSP00000489821.1:n.*877G=
ENST00000636384.2:c.*545G= ENSP00000490765.1:n.*545G=
ENST00000636662.2:c.*3081G= ENSP00000489873.1:n.*3081G=
ENST00000636769.1:c.*500G= ENSP00000490800.1:n.*500G=
ENST00000636985.2:c.2162G= ENSP00000490849.1:p.Arg721=
ENST00000637266.2:c.2558G= ENSP00000490866.1:p.Arg853=
ENST00000674133.1:c.409G=
XM_005246750.2:c.2558G= XP_005246807.1:p.Arg853=
XM_005246753.2:c.2558G= XP_005246810.1:p.Arg853=
XM_005246753.3:c.2558G= XP_005246810.1:p.Arg853=
XM_005246754.3:c.2528G= XP_005246811.1:p.Arg843=
XM_005246755.3:c.1805G= XP_005246812.1:p.Arg602=
XM_011511608.1:c.2558G= XP_011509910.1:p.Arg853=
XM_011511609.1:c.2558G= XP_011509911.1:p.Arg853=
XM_017004656.1:c.2558G= XP_016860145.1:p.Arg853=
XM_017004657.1:c.2558G= XP_016860146.1:p.Arg853=
XM_017004658.1:c.1805G= XP_016860147.1:p.Arg602=
XM_017004659.1:c.356G= XP_016860148.1:p.Arg119=
XM_024453037.1:c.1805G= XP_024308805.1:p.Arg602=