ClinVar

NM_001625.4(AK2):c.582C>T (p.Thr194=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1p35.1

Genomic location:

• Chr1: 33013319 (on Assembly GRCh38)
• Chr1: 33478920 (on Assembly GRCh37)

Preferred name:

NM_001625.4(AK2):c.582C>T (p.Thr194=)

HGVS:

• NC_000001.11:g.33013319G>A
• NG_016269.1:g.28573C>T
• NM_001199199.3:c.558C>T
• NM_001319139.3:c.438C>T
• NM_001319140.2:c.438C>T
• NM_001319141.3:c.582C>T
• NM_001319142.3:c.456C>T
• NM_001319143.2:c.*85C>T
• NM_001625.3:c.582C>T
• NM_001625.4:c.582C>TMANE SELECT
• NM_013411.5:c.582C>T
• NP_001186128.1:p.Thr186=
• NP_001306068.1:p.Thr146=
• NP_001306069.1:p.Thr146=
• NP_001306070.1:p.Thr194=
• NP_001306071.1:p.Thr152=
• NP_001616.1:p.Thr194=
• NP_037543.1:p.Thr194=
• LRG_133:g.28573C>T
• NC_000001.10:g.33478920G>A
• NR_134976.3:n.542C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs111261425

NCBI 1000 Genomes Browser:

rs111261425

Molecular consequence:

• NM_001319143.2:c.*85C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NR_134976.3:n.542C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001199199.3:c.558C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001319139.3:c.438C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001319140.2:c.438C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001319141.3:c.582C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001319142.3:c.456C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001625.4:c.582C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_013411.5:c.582C>T - synonymous variant - [Sequence Ontology: SO:0001819]