ClinVar

NM_000238.4(KCNH2):c.1862G>A (p.Ser621Asn)

Gene:

KCNH2:potassium voltage-gated channel subfamily H member 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7q36.1

Genomic location:

• Chr7: 150951531 (on Assembly GRCh38)
• Chr7: 150648619 (on Assembly GRCh37)

Preferred name:

NM_000238.4(KCNH2):c.1862G>A (p.Ser621Asn)

HGVS:

• NC_000007.14:g.150951531C>T
• NG_008916.1:g.31396G>A
• NM_000238.4:c.1862G>AMANE SELECT
• NM_001204798.2:c.842G>A
• NM_001406753.1:c.1574G>A
• NM_001406755.1:c.1685G>A
• NM_001406756.1:c.1574G>A
• NM_001406757.1:c.1562G>A
• NM_172056.3:c.1862G>A
• NM_172057.3:c.842G>A
• NP_000229.1:p.Ser621Asn
• NP_000229.1:p.Ser621Asn
• NP_001191727.1:p.Ser281Asn
• NP_001393682.1:p.Ser525Asn
• NP_001393684.1:p.Ser562Asn
• NP_001393685.1:p.Ser525Asn
• NP_001393686.1:p.Ser521Asn
• NP_742053.1:p.Ser621Asn
• NP_742053.1:p.Ser621Asn
• NP_742054.1:p.Ser281Asn
• NP_742054.1:p.Ser281Asn
• LRG_288t1:c.1862G>A
• LRG_288t2:c.1862G>A
• LRG_288t3:c.842G>A
• LRG_288:g.31396G>A
• LRG_288p1:p.Ser621Asn
• LRG_288p2:p.Ser621Asn
• LRG_288p3:p.Ser281Asn
• NC_000007.13:g.150648619C>T
• NM_000238.3:c.1862G>A
• NM_172056.2:c.1862G>A
• NM_172057.2:c.842G>A
• NR_176254.1:n.2270G>A
• NR_176255.1:n.1143G>A

This HGVS expression did not pass validation

Protein change:

S281N

Links:

dbSNP: rs199472948

NCBI 1000 Genomes Browser:

rs199472948

Molecular consequence:

• NM_000238.4:c.1862G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001204798.2:c.842G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406753.1:c.1574G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406755.1:c.1685G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406756.1:c.1574G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001406757.1:c.1562G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_172056.3:c.1862G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_172057.3:c.842G>A - missense variant - [Sequence Ontology: SO:0001583]