ClinVar

NM_198503.5(KCNT2):c.1884C>T (p.Ser628=)

Gene:

KCNT2:potassium sodium-activated channel subfamily T member 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q31.3

Genomic location:

• Chr1: 196333960 (on Assembly GRCh38)
• Chr1: 196303090 (on Assembly GRCh37)

Preferred name:

NM_198503.5(KCNT2):c.1884C>T (p.Ser628=)

HGVS:

• NC_000001.11:g.196333960G>A
• NM_001287819.3:c.1884C>T
• NM_001287820.3:c.1734C>T
• NM_198503.5:c.1884C>TMANE SELECT
• NP_001274748.1:p.Ser628=
• NP_001274749.1:p.Ser578=
• NP_940905.2:p.Ser628=
• NC_000001.10:g.196303090G>A
• NR_146057.2:n.1906C>T
• NR_146058.2:n.2015C>T

This HGVS expression did not pass validation

Molecular consequence:

• NR_146057.2:n.1906C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_146058.2:n.2015C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001287819.3:c.1884C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001287820.3:c.1734C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_198503.5:c.1884C>T - synonymous variant - [Sequence Ontology: SO:0001819]