ClinVar

NM_001199862.2(KCNAB2):c.1176A>G (p.Ser392=)

Gene:

KCNAB2:potassium voltage-gated channel subfamily A regulatory beta subunit 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p36.31

Genomic location:

• Chr1: 6098502 (on Assembly GRCh38)
• Chr1: 6158562 (on Assembly GRCh37)

Preferred name:

NM_001199862.2(KCNAB2):c.1176A>G (p.Ser392=)

HGVS:

• NC_000001.11:g.6098502A>G
• NG_047091.1:g.111205A>G
• NM_001199860.2:c.1032A>G
• NM_001199861.2:c.1032A>G
• NM_001199862.2:c.1176A>GMANE SELECT
• NM_001199863.2:c.831A>G
• NM_003636.4:c.1032A>G
• NM_172130.3:c.990A>G
• NP_001186789.1:p.Ser344=
• NP_001186790.1:p.Ser344=
• NP_001186791.1:p.Ser392=
• NP_001186792.1:p.Ser277=
• NP_003627.1:p.Ser344=
• NP_742128.1:p.Ser330=
• NC_000001.10:g.6158562A>G
• NM_003636.3:c.1032A>G

This HGVS expression did not pass validation

Links:

dbSNP: rs2229002

NCBI 1000 Genomes Browser:

rs2229002

Molecular consequence:

• NM_001199860.2:c.1032A>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001199861.2:c.1032A>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001199862.2:c.1176A>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001199863.2:c.831A>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_003636.4:c.1032A>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_172130.3:c.990A>G - synonymous variant - [Sequence Ontology: SO:0001819]