ClinVar

NM_001625.4(AK2):c.624C>T (p.Ser208=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1p35.1

Genomic location:

• Chr1: 33013277 (on Assembly GRCh38)
• Chr1: 33478878 (on Assembly GRCh37)

Preferred name:

NM_001625.4(AK2):c.624C>T (p.Ser208=)

HGVS:

• NC_000001.11:g.33013277G>A
• NG_016269.1:g.28615C>T
• NM_001199199.3:c.600C>T
• NM_001319139.3:c.480C>T
• NM_001319140.2:c.480C>T
• NM_001319141.3:c.624C>T
• NM_001319142.3:c.498C>T
• NM_001319143.2:c.*127C>T
• NM_001625.4:c.624C>TMANE SELECT
• NM_013411.5:c.624C>T
• NP_001186128.1:p.Ser200=
• NP_001306068.1:p.Ser160=
• NP_001306069.1:p.Ser160=
• NP_001306070.1:p.Ser208=
• NP_001306071.1:p.Ser166=
• NP_001616.1:p.Ser208=
• NP_037543.1:p.Ser208=
• LRG_133:g.28615C>T
• NC_000001.10:g.33478878G>A
• NR_134976.3:n.584C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs779366586

NCBI 1000 Genomes Browser:

rs779366586

Molecular consequence:

• NM_001319143.2:c.*127C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NR_134976.3:n.584C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001199199.3:c.600C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001319139.3:c.480C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001319140.2:c.480C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001319141.3:c.624C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001319142.3:c.498C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001625.4:c.624C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_013411.5:c.624C>T - synonymous variant - [Sequence Ontology: SO:0001819]