ClinVar

NM_004614.5(TK2):c.89G>A (p.Gly30Glu)

Genes:

LOC130059156:ATAC-STARR-seq lymphoblastoid silent region 7560 [Gene]
TK2:thymidine kinase 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q21

Genomic location:

• Chr16: 66549973 (on Assembly GRCh38)
• Chr16: 66583876 (on Assembly GRCh37)

Preferred name:

NM_004614.5(TK2):c.89G>A (p.Gly30Glu)

HGVS:

• NC_000016.10:g.66549973C>T
• NG_016862.1:g.5440G>A
• NM_001172643.1:c.31+280G>A
• NM_001172644.2:c.89G>A
• NM_001172645.2:c.89G>A
• NM_001271934.2:c.-154G>A
• NM_001271935.1:c.31+280G>A
• NM_001272050.2:c.-564G>A
• NM_004614.5:c.89G>AMANE SELECT
• NP_001166115.1:p.Gly30Glu
• NP_001166116.1:p.Gly30Glu
• NP_004605.4:p.Gly30Glu
• NC_000016.9:g.66583876C>T
• NM_004614.4:c.89G>A
• NR_073520.2:n.150G>A

This HGVS expression did not pass validation

Protein change:

G30E

Links:

dbSNP: rs1965740352

NCBI 1000 Genomes Browser:

rs1965740352

Molecular consequence:

• NM_001271934.2:c.-154G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001272050.2:c.-564G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001172643.1:c.31+280G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001271935.1:c.31+280G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001172644.2:c.89G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001172645.2:c.89G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_004614.5:c.89G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_073520.2:n.150G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]