ClinVar

NM_001625.4(AK2):c.697A>T (p.Lys233Ter)

Gene:

AK2:adenylate kinase 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p35.1

Genomic location:

• Chr1: 33013204 (on Assembly GRCh38)
• Chr1: 33478805 (on Assembly GRCh37)

Preferred name:

NM_001625.4(AK2):c.697A>T (p.Lys233Ter)

HGVS:

• NC_000001.11:g.33013204T>A
• NG_016269.1:g.28688A>T
• NM_001199199.3:c.670+3A>T
• NM_001319139.3:c.550+3A>T
• NM_001319140.2:c.553A>T
• NM_001319141.3:c.694+3A>T
• NM_001319142.3:c.568+3A>T
• NM_001319143.2:c.*200A>T
• NM_001625.4:c.697A>TMANE SELECT
• NM_013411.5:c.694+3A>T
• NP_001306069.1:p.Lys185Ter
• NP_001616.1:p.Lys233Ter
• LRG_133:g.28688A>T
• NC_000001.10:g.33478805T>A

This HGVS expression did not pass validation

Protein change:

K185*; LYS233TER

Links:

OMIM: 103020.0012; dbSNP: rs267606646

NCBI 1000 Genomes Browser:

rs267606646

Molecular consequence:

• NM_001319143.2:c.*200A>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001199199.3:c.670+3A>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001319139.3:c.550+3A>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001319141.3:c.694+3A>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001319142.3:c.568+3A>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_013411.5:c.694+3A>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001319140.2:c.553A>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001625.4:c.697A>T - nonsense - [Sequence Ontology: SO:0001587]