ClinVar

NM_001318734.2(KLC2):c.576C>T (p.Tyr192=)

Genes:

KLC2-AS1:KLC2 antisense RNA 1 [Gene - HGNC]
KLC2:kinesin light chain 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q13.2

Genomic location:

• Chr11: 66262860 (on Assembly GRCh38)
• Chr11: 66030331 (on Assembly GRCh37)

Preferred name:

NM_001318734.2(KLC2):c.576C>T (p.Tyr192=)

HGVS:

• NC_000011.10:g.66262860C>T
• NG_046774.2:g.23924C>T
• NM_001134774.2:c.345C>T
• NM_001134775.2:c.576C>T
• NM_001134776.2:c.576C>T
• NM_001318734.2:c.576C>TMANE SELECT
• NM_022822.3:c.576C>T
• NP_001128246.1:p.Tyr115=
• NP_001128247.1:p.Tyr192=
• NP_001128248.1:p.Tyr192=
• NP_001305663.1:p.Tyr192=
• NP_073733.1:p.Tyr192=
• NC_000011.9:g.66030331C>T
• NG_046774.1:g.10567C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_001134774.2:c.345C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001134775.2:c.576C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001134776.2:c.576C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001318734.2:c.576C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_022822.3:c.576C>T - synonymous variant - [Sequence Ontology: SO:0001819]