AK2 gene homepage

MSeqDR-LSDB: Mitochondrial Disease LSDB
General information
Gene symbol AK2
Gene name adenylate kinase 2
Chromosome 1
Chromosomal band p35.1
Imprinted Unknown
Genomic reference NC_000001.10
Transcript reference NM_001199199.1, NM_001625.3, NM_013411.4, NR_037591.1, NR_037592.1
Associated with diseases 267500
Citation reference(s) -
Curators (0) -
Total number of public variants reported 30
Unique public DNA variants reported 23
Individuals with public variants 0
Hidden variants 0
Download all this gene's data Download all data
Notes MSeqDR-LSDB
Date created November 12, 2013

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
HGNC 362
Entrez Gene 204
PubMed articles AK2
OMIM - Gene 103020
OMIM - Diseases 267500 (Reticular dysgenesis, 267500 (3))
HGMD AK2
GeneCards AK2
GeneTests AK2


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000423 1 transcript variant 3 NM_001199199.1 NP_001186128.1 30
00000424 1 transcript variant 2 NM_013411.4 NP_037543.1 30
00000425 1 transcript variant 4 NR_037591.1 - 30
00000426 1 transcript variant 1 NM_001625.3 NP_001616.1 30
00000427 1 transcript variant 5 NR_037592.1 - 30


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Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium