ClinVar

NM_004614.5(TK2):c.*2419C>T

Gene:

TK2:thymidine kinase 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q21

Genomic location:

• Chr16: 66509549 (on Assembly GRCh38)
• Chr16: 66543452 (on Assembly GRCh37)

Preferred name:

NM_004614.5(TK2):c.*2419C>T

HGVS:

• NC_000016.10:g.66509549G>A
• NG_016862.1:g.45864C>T
• NM_001172643.1:c.*2419C>T
• NM_001172644.2:c.*2419C>T
• NM_001172645.2:c.*2419C>T
• NM_001271934.2:c.*2419C>T
• NM_001271935.1:c.*2514C>T
• NM_001272050.2:c.*2419C>T
• NM_004614.5:c.*2419C>TMANE SELECT
• NC_000016.9:g.66543452G>A
• NM_004614.4:c.*2419C>T
• NR_073520.2:n.4206C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs74372298

NCBI 1000 Genomes Browser:

rs74372298

Molecular consequence:

• NM_001172643.1:c.*2419C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001172644.2:c.*2419C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001172645.2:c.*2419C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001271934.2:c.*2419C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001271935.1:c.*2514C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001272050.2:c.*2419C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_004614.5:c.*2419C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NR_073520.2:n.4206C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]