ClinVar

NM_198503.5(KCNT2):c.2266T>C (p.Leu756=)

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: 196326727 (on Assembly GRCh38)
• Chr1: 196295857 (on Assembly GRCh37)

Preferred name:

NM_198503.5(KCNT2):c.2266T>C (p.Leu756=)

HGVS:

• NC_000001.11:g.196326727A>G
• NM_001287819.3:c.2266T>C
• NM_001287820.3:c.2116T>C
• NM_198503.5:c.2266T>CMANE SELECT
• NP_001274748.1:p.Leu756=
• NP_001274749.1:p.Leu706=
• NP_940905.2:p.Leu756=
• NC_000001.10:g.196295857A>G
• NR_146057.2:n.2288T>C
• NR_146058.2:n.2397T>C

This HGVS expression did not pass validation

Molecular consequence:

• NR_146057.2:n.2288T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_146058.2:n.2397T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001287819.3:c.2266T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001287820.3:c.2116T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_198503.5:c.2266T>C - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

3