ClinVar

NM_001625.4(AK2):c.438C>T (p.Pro146=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1p35.1

Genomic location:

• Chr1: 33014582 (on Assembly GRCh38)
• Chr1: 33480183 (on Assembly GRCh37)

Preferred name:

NM_001625.4(AK2):c.438C>T (p.Pro146=)

HGVS:

• NC_000001.11:g.33014582G>A
• NG_016269.1:g.27310C>T
• NM_001199199.3:c.414C>T
• NM_001319139.3:c.294C>T
• NM_001319140.2:c.294C>T
• NM_001319141.3:c.438C>T
• NM_001319142.3:c.312C>T
• NM_001319143.2:c.343C>T
• NM_001625.4:c.438C>TMANE SELECT
• NM_013411.5:c.438C>T
• NP_001186128.1:p.Pro138=
• NP_001306068.1:p.Pro98=
• NP_001306069.1:p.Pro98=
• NP_001306070.1:p.Pro146=
• NP_001306071.1:p.Pro104=
• NP_001306072.1:p.Gln115Ter
• NP_001616.1:p.Pro146=
• NP_037543.1:p.Pro146=
• LRG_133:g.27310C>T
• NC_000001.10:g.33480183G>A
• NR_134976.3:n.398C>T

This HGVS expression did not pass validation

Protein change:

Q115*

Links:

dbSNP: rs987764285

NCBI 1000 Genomes Browser:

rs987764285

Molecular consequence:

• NR_134976.3:n.398C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001319143.2:c.343C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001199199.3:c.414C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001319139.3:c.294C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001319140.2:c.294C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001319141.3:c.438C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001319142.3:c.312C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001625.4:c.438C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_013411.5:c.438C>T - synonymous variant - [Sequence Ontology: SO:0001819]