ClinVar

NM_172107.4(KCNQ2):c.2117C>A (p.Ala706Asp)

Gene:

KCNQ2:potassium voltage-gated channel subfamily Q member 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

20q13.33

Genomic location:

• Chr20: 63407146 (on Assembly GRCh38)
• Chr20: 62038499 (on Assembly GRCh37)

Preferred name:

NM_172107.4(KCNQ2):c.2117C>A (p.Ala706Asp)

HGVS:

• NC_000020.11:g.63407146G>T
• NG_009004.2:g.70495C>A
• NM_001382235.1:c.2171C>A
• NM_004518.6:c.2033C>A
• NM_172106.3:c.2063C>A
• NM_172107.4:c.2117C>AMANE SELECT
• NM_172108.5:c.2024C>A
• NP_001369164.1:p.Ala724Asp
• NP_004509.2:p.Ala678Asp
• NP_742104.1:p.Ala688Asp
• NP_742105.1:p.Ala706Asp
• NP_742106.1:p.Ala675Asp
• NC_000020.10:g.62038499G>T
• NM_172107.2:c.2117C>A
• NM_172107.3:c.2117C>A

This HGVS expression did not pass validation

Protein change:

A675D

Links:

dbSNP: rs980128101

NCBI 1000 Genomes Browser:

rs980128101

Molecular consequence:

• NM_001382235.1:c.2171C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_004518.6:c.2033C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_172106.3:c.2063C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_172107.4:c.2117C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_172108.5:c.2024C>A - missense variant - [Sequence Ontology: SO:0001583]