ClinVar

NM_001040142.2(SCN2A):c.56G>A (p.Arg19Lys)

Gene:

SCN2A:sodium voltage-gated channel alpha subunit 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q24.3

Genomic location:

• Chr2: 165295879 (on Assembly GRCh38)
• Chr2: 166152389 (on Assembly GRCh37)

Preferred name:

NM_001040142.2(SCN2A):c.56G>A (p.Arg19Lys)

Other names:

NM_001040142.2(SCN2A):c.56G>A

HGVS:

• NC_000002.12:g.165295879G>A
• NG_008143.1:g.61478G>A
• NM_001040142.2:c.56G>AMANE SELECT
• NM_001040143.2:c.56G>A
• NM_001371246.1:c.56G>A
• NM_001371247.1:c.56G>A
• NM_021007.3:c.56G>A
• NP_001035232.1:p.Arg19Lys
• NP_001035233.1:p.Arg19Lys
• NP_001358175.1:p.Arg19Lys
• NP_001358176.1:p.Arg19Lys
• NP_066287.2:p.Arg19Lys
• NP_066287.2:p.Arg19Lys
• NC_000002.11:g.166152389G>A
• NM_021007.2:c.56G>A
• Q99250:p.Arg19Lys

This HGVS expression did not pass validation

Protein change:

R19K

Links:

UniProtKB: Q99250#VAR_029732; dbSNP: rs17183814

NCBI 1000 Genomes Browser:

rs17183814

Molecular consequence:

• NM_001040142.2:c.56G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001040143.2:c.56G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001371246.1:c.56G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001371247.1:c.56G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_021007.3:c.56G>A - missense variant - [Sequence Ontology: SO:0001583]