ClinVar

NM_001625.4(AK2):c.449G>A (p.Arg150His)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1p35.1

Genomic location:

• Chr1: 33014571 (on Assembly GRCh38)
• Chr1: 33480172 (on Assembly GRCh37)

Preferred name:

NM_001625.4(AK2):c.449G>A (p.Arg150His)

HGVS:

• NC_000001.11:g.33014571C>T
• NG_016269.1:g.27321G>A
• NM_001199199.3:c.425G>A
• NM_001319139.3:c.305G>A
• NM_001319140.2:c.305G>A
• NM_001319141.3:c.449G>A
• NM_001319142.3:c.323G>A
• NM_001319143.2:c.354G>A
• NM_001625.4:c.449G>AMANE SELECT
• NM_013411.5:c.449G>A
• NP_001186128.1:p.Arg142His
• NP_001306068.1:p.Arg102His
• NP_001306069.1:p.Arg102His
• NP_001306070.1:p.Arg150His
• NP_001306071.1:p.Arg108His
• NP_001306072.1:p.Pro118=
• NP_001616.1:p.Arg150His
• NP_037543.1:p.Arg150His
• LRG_133:g.27321G>A
• NC_000001.10:g.33480172C>T
• NM_001625.2:c.449G>A
• NM_001625.3:c.449G>A
• NR_134976.3:n.409G>A

This HGVS expression did not pass validation

Protein change:

R102H

Links:

dbSNP: rs149227118

NCBI 1000 Genomes Browser:

rs149227118

Molecular consequence:

• NM_001199199.3:c.425G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001319139.3:c.305G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001319140.2:c.305G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001319141.3:c.449G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001319142.3:c.323G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001625.4:c.449G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_013411.5:c.449G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_134976.3:n.409G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001319143.2:c.354G>A - synonymous variant - [Sequence Ontology: SO:0001819]