ClinVar

NM_001625.4(AK2):c.*2379C>T

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1p35.1

Genomic location:

• Chr1: 33010802 (on Assembly GRCh38)
• Chr1: 33476403 (on Assembly GRCh37)

Preferred name:

NM_001625.4(AK2):c.*2379C>T

HGVS:

• NC_000001.11:g.33010802G>A
• NG_016269.1:g.31090C>T
• NM_001199199.3:c.*27C>T
• NM_001319139.3:c.*27C>T
• NM_001319140.2:c.*2379C>T
• NM_001319141.3:c.*76C>T
• NM_001319142.3:c.*27C>T
• NM_001319143.2:c.*2602C>T
• NM_001625.4:c.*2379C>TMANE SELECT
• NM_013411.5:c.*27C>T
• LRG_133:g.31090C>T
• NC_000001.10:g.33476403G>A
• NR_134976.3:n.686C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs113309753

NCBI 1000 Genomes Browser:

rs113309753

Molecular consequence:

• NM_001199199.3:c.*27C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001319139.3:c.*27C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001319140.2:c.*2379C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001319141.3:c.*76C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001319142.3:c.*27C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001319143.2:c.*2602C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001625.4:c.*2379C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_013411.5:c.*27C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NR_134976.3:n.686C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]