ClinVar

NM_000891.3(KCNJ2):c.1002G>A (p.Lys334=)

Gene:

KCNJ2:potassium inwardly rectifying channel subfamily J member 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q24.3

Genomic location:

• Chr17: 70176041 (on Assembly GRCh38)
• Chr17: 68172182 (on Assembly GRCh37)

Preferred name:

NM_000891.3(KCNJ2):c.1002G>A (p.Lys334=)

HGVS:

• NC_000017.11:g.70176041G>A
• NG_008798.1:g.11507G>A
• NM_000891.3:c.1002G>AMANE SELECT
• NP_000882.1:p.Lys334=
• NP_000882.1:p.Lys334=
• LRG_328t1:c.1002G>A
• LRG_328:g.11507G>A
• LRG_328p1:p.Lys334=
• NC_000017.10:g.68172182G>A
• NM_000891.2:c.1002G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs372264881

NCBI 1000 Genomes Browser:

rs372264881

Molecular consequence:

• NM_000891.3:c.1002G>A - synonymous variant - [Sequence Ontology: SO:0001819]