NARS2 (asparaginyl-tRNA synthetase 2, mitochondrial) - Rat Genome Database

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Gene: NARS2 (asparaginyl-tRNA synthetase 2, mitochondrial) Homo sapiens
Analyze
Symbol: NARS2
Name: asparaginyl-tRNA synthetase 2, mitochondrial
RGD ID: 1605947
HGNC Page HGNC:26274
Description: Predicted to enable asparagine-tRNA ligase activity. Predicted to be involved in asparaginyl-tRNA aminoacylation. Located in cytosol; mitochondrion; and nucleoplasm. Implicated in autosomal recessive nonsyndromic deafness 94 and combined oxidative phosphorylation deficiency 24.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: asnRS; asparagine tRNA ligase 2, mitochondrial (putative); asparagine--tRNA ligase; asparaginyl-tRNA synthetase 2, mitochondrial (putative); COXPD24; deafness, autosomal recessive 94; DFNB94; FLJ23441; probable asparagine--tRNA ligase, mitochondrial; probable asparaginyl-tRNA synthetase, mitochondrial; SLM5
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381178,435,968 - 78,574,864 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl1178,435,620 - 78,575,194 (-)EnsemblGRCh38hg38GRCh38
GRCh371178,147,014 - 78,285,909 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361177,824,886 - 77,963,367 (-)NCBINCBI36Build 36hg18NCBI36
Celera1175,455,482 - 75,594,400 (-)NCBICelera
Cytogenetic Map11q14.1NCBI
HuRef1174,444,114 - 74,583,005 (-)NCBIHuRef
CHM1_11178,030,151 - 78,168,915 (-)NCBICHM1_1
T2T-CHM13v2.01178,369,261 - 78,508,161 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cytosol  (IDA)
mitochondrial matrix  (IEA)
mitochondrion  (IBA,IDA,IEA,ISS)
nucleoplasm  (IDA)

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
2. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:8125298   PMID:12477932   PMID:14702039   PMID:15342556   PMID:15489334   PMID:15779907   PMID:16344560   PMID:20379614   PMID:20877624   PMID:21873635   PMID:22190034   PMID:25385316  
PMID:25629079   PMID:25649651   PMID:25807530   PMID:26058080   PMID:26186194   PMID:26344197   PMID:27499296   PMID:28077841   PMID:28380382   PMID:28514442   PMID:28822227   PMID:29568061  
PMID:29955894   PMID:30088171   PMID:31056398   PMID:31182584   PMID:31540324   PMID:32353859   PMID:32628020   PMID:32877691   PMID:33060197   PMID:33596490   PMID:33845483   PMID:33961781  
PMID:34079125   PMID:35509820   PMID:35831314  


Genomics

Comparative Map Data
NARS2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381178,435,968 - 78,574,864 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl1178,435,620 - 78,575,194 (-)EnsemblGRCh38hg38GRCh38
GRCh371178,147,014 - 78,285,909 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361177,824,886 - 77,963,367 (-)NCBINCBI36Build 36hg18NCBI36
Celera1175,455,482 - 75,594,400 (-)NCBICelera
Cytogenetic Map11q14.1NCBI
HuRef1174,444,114 - 74,583,005 (-)NCBIHuRef
CHM1_11178,030,151 - 78,168,915 (-)NCBICHM1_1
T2T-CHM13v2.01178,369,261 - 78,508,161 (-)NCBIT2T-CHM13v2.0
Nars2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39796,600,698 - 96,725,606 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl796,600,712 - 96,713,965 (+)EnsemblGRCm39 Ensembl
GRCm38796,950,839 - 97,064,758 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl796,951,505 - 97,064,758 (+)EnsemblGRCm38mm10GRCm38
MGSCv377104,100,037 - 104,213,268 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36796,826,719 - 96,939,947 (+)NCBIMGSCv36mm8
MGSCv36786,687,459 - 86,800,685 (+)NCBIMGSCv36mm8
Cytogenetic Map7E1NCBI
Nars2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21151,300,446 - 151,412,069 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1151,300,467 - 151,413,521 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1159,283,727 - 159,398,167 (+)NCBIRnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.01166,463,898 - 166,578,341 (+)NCBIRnor_SHRSP
UTH_Rnor_WKY_Bbb_1.01159,337,376 - 159,451,835 (+)NCBIRnor_WKY
Rnor_6.01161,922,132 - 162,035,817 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1161,922,141 - 162,034,700 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01168,135,529 - 168,218,633 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41154,216,134 - 154,299,695 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11154,294,448 - 154,407,988 (+)NCBI
Celera1149,405,605 - 149,488,192 (+)NCBICelera
Cytogenetic Map1q32NCBI
Nars2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541413,410,741 - 13,528,423 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541413,410,751 - 13,528,014 (+)NCBIChiLan1.0ChiLan1.0
NARS2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11177,117,668 - 77,255,037 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1177,117,668 - 77,255,037 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01173,496,423 - 73,634,623 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
NARS2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12120,277,707 - 20,413,624 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2120,277,507 - 20,606,736 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2120,172,632 - 20,308,737 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02120,480,690 - 20,616,549 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2120,480,413 - 20,624,453 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12120,258,355 - 20,393,504 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02120,472,646 - 20,608,490 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02120,396,339 - 20,532,773 (+)NCBIUU_Cfam_GSD_1.0
Nars2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494765,367,635 - 65,508,517 (-)NCBIHiC_Itri_2
SpeTri2.0NW_0049364986,967,277 - 7,108,130 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NARS2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl912,867,686 - 13,010,887 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1912,869,347 - 13,010,897 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2914,153,526 - 14,294,377 (-)NCBISscrofa10.2Sscrofa10.2susScr3
NARS2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1169,647,713 - 69,778,390 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl169,643,531 - 69,778,361 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604355,958,968 - 56,097,658 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Nars2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248631,446,081 - 1,584,003 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248631,439,257 - 1,583,877 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Position Markers
D11S1937E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371178,173,259 - 78,173,357UniSTSGRCh37
GRCh371178,173,262 - 78,173,381UniSTSGRCh37
Build 361177,850,907 - 77,851,005RGDNCBI36
Celera1175,481,728 - 75,481,847UniSTS
Celera1175,481,725 - 75,481,823RGD
Cytogenetic Map11q14.1UniSTS
HuRef1174,470,370 - 74,470,489UniSTS
HuRef1174,470,367 - 74,470,465UniSTS
GeneMap99-GB4 RH Map11278.45UniSTS
WI-11419  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371178,147,284 - 78,147,383UniSTSGRCh37
Build 361177,824,932 - 77,825,031RGDNCBI36
Celera1175,455,750 - 75,455,849RGD
Cytogenetic Map11q14.1UniSTS
HuRef1174,444,391 - 74,444,490UniSTS
GeneMap99-GB4 RH Map11276.92UniSTS
Whitehead-RH Map11376.8UniSTS
NCBI RH Map11642.6UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:892
Count of miRNA genes:503
Interacting mature miRNAs:546
Transcripts:ENST00000281038, ENST00000525345, ENST00000526709, ENST00000528850, ENST00000529571, ENST00000529771, ENST00000529880
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 386 310 968 250 778 202 1942 612 918 294 991 1016 61 396 1269 3
Low 2053 2587 758 374 1093 263 2414 1571 2815 124 469 597 114 1 808 1519 3 2
Below cutoff 94 80 14 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_042046 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001243251 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_024678 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545253 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018302 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018303 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018304 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047427591 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047427592 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047427593 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047427594 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047427595 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001747963 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001747964 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001747965 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001747966 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AK027094 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK056980 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225444 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315425 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP003086 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP003110 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW968557 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC007800 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM023108 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP196275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP199309 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA509243 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB565980 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF455423 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF455424 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF511161 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000281038   ⟹   ENSP00000281038
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1178,435,968 - 78,574,864 (-)Ensembl
RefSeq Acc Id: ENST00000525345   ⟹   ENSP00000436114
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1178,436,670 - 78,566,267 (-)Ensembl
RefSeq Acc Id: ENST00000526709
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1178,568,715 - 78,571,670 (-)Ensembl
RefSeq Acc Id: ENST00000528850   ⟹   ENSP00000432635
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1178,436,223 - 78,573,530 (-)Ensembl
RefSeq Acc Id: ENST00000529571   ⟹   ENSP00000433478
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1178,528,842 - 78,574,874 (-)Ensembl
RefSeq Acc Id: ENST00000529771   ⟹   ENSP00000435298
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1178,436,009 - 78,574,874 (-)Ensembl
RefSeq Acc Id: ENST00000529880   ⟹   ENSP00000432240
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1178,465,883 - 78,574,518 (-)Ensembl
RefSeq Acc Id: ENST00000695114
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1178,436,023 - 78,574,790 (-)Ensembl
RefSeq Acc Id: ENST00000695115   ⟹   ENSP00000511705
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1178,436,023 - 78,574,867 (-)Ensembl
RefSeq Acc Id: ENST00000695116   ⟹   ENSP00000511706
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1178,436,048 - 78,575,194 (-)Ensembl
RefSeq Acc Id: ENST00000695117
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1178,527,380 - 78,574,864 (-)Ensembl
RefSeq Acc Id: ENST00000695341   ⟹   ENSP00000511816
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1178,435,620 - 78,574,857 (-)Ensembl
RefSeq Acc Id: ENST00000695342   ⟹   ENSP00000511817
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1178,435,976 - 78,574,842 (-)Ensembl
RefSeq Acc Id: ENST00000695343   ⟹   ENSP00000511818
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1178,435,976 - 78,574,854 (-)Ensembl
RefSeq Acc Id: ENST00000695344   ⟹   ENSP00000511819
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1178,436,007 - 78,574,842 (-)Ensembl
RefSeq Acc Id: ENST00000695345   ⟹   ENSP00000511820
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1178,436,010 - 78,574,864 (-)Ensembl
RefSeq Acc Id: ENST00000695346   ⟹   ENSP00000511821
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1178,436,023 - 78,574,778 (-)Ensembl
RefSeq Acc Id: ENST00000695347   ⟹   ENSP00000511822
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1178,436,023 - 78,574,778 (-)Ensembl
RefSeq Acc Id: ENST00000695348   ⟹   ENSP00000511823
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1178,436,023 - 78,574,857 (-)Ensembl
RefSeq Acc Id: ENST00000695349   ⟹   ENSP00000511824
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1178,436,033 - 78,574,778 (-)Ensembl
RefSeq Acc Id: ENST00000695350   ⟹   ENSP00000511825
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1178,436,048 - 78,574,816 (-)Ensembl
RefSeq Acc Id: ENST00000695351   ⟹   ENSP00000511826
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1178,436,048 - 78,574,837 (-)Ensembl
RefSeq Acc Id: ENST00000695352   ⟹   ENSP00000511827
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1178,436,048 - 78,574,864 (-)Ensembl
RefSeq Acc Id: ENST00000695353   ⟹   ENSP00000511828
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1178,436,048 - 78,574,864 (-)Ensembl
RefSeq Acc Id: ENST00000695354   ⟹   ENSP00000511829
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1178,436,076 - 78,574,778 (-)Ensembl
RefSeq Acc Id: ENST00000695355   ⟹   ENSP00000511830
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1178,436,216 - 78,574,778 (-)Ensembl
RefSeq Acc Id: ENST00000695356   ⟹   ENSP00000511831
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1178,436,258 - 78,574,655 (-)Ensembl
RefSeq Acc Id: ENST00000695357   ⟹   ENSP00000511832
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1178,436,258 - 78,574,829 (-)Ensembl
RefSeq Acc Id: ENST00000695358   ⟹   ENSP00000511833
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1178,436,279 - 78,574,834 (-)Ensembl
RefSeq Acc Id: ENST00000695359   ⟹   ENSP00000511834
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1178,436,304 - 78,574,778 (-)Ensembl
RefSeq Acc Id: ENST00000695360   ⟹   ENSP00000511835
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1178,436,322 - 78,574,778 (-)Ensembl
RefSeq Acc Id: ENST00000695361   ⟹   ENSP00000511836
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1178,436,325 - 78,574,778 (-)Ensembl
RefSeq Acc Id: ENST00000695362   ⟹   ENSP00000511837
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1178,436,325 - 78,574,778 (-)Ensembl
RefSeq Acc Id: ENST00000695363
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1178,436,704 - 78,443,721 (-)Ensembl
RefSeq Acc Id: ENST00000695364
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1178,475,690 - 78,574,826 (-)Ensembl
RefSeq Acc Id: ENST00000695365
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1178,475,772 - 78,574,778 (-)Ensembl
RefSeq Acc Id: ENST00000695366   ⟹   ENSP00000511838
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1178,436,258 - 78,574,778 (-)Ensembl
RefSeq Acc Id: NM_001243251   ⟹   NP_001230180
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381178,435,968 - 78,574,864 (-)NCBI
GRCh371178,147,007 - 78,285,909 (-)NCBI
HuRef1174,444,114 - 74,583,005 (-)NCBI
CHM1_11178,030,151 - 78,168,915 (-)NCBI
T2T-CHM13v2.01178,369,261 - 78,508,161 (-)NCBI
Sequence:
RefSeq Acc Id: NM_024678   ⟹   NP_078954
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381178,435,968 - 78,574,864 (-)NCBI
GRCh371178,147,007 - 78,285,909 (-)NCBI
Build 361177,824,886 - 77,963,367 (-)NCBI Archive
Celera1175,455,482 - 75,594,400 (-)RGD
HuRef1174,444,114 - 74,583,005 (-)NCBI
CHM1_11178,030,151 - 78,168,915 (-)NCBI
T2T-CHM13v2.01178,369,261 - 78,508,161 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011545253   ⟹   XP_011543555
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381178,435,968 - 78,574,864 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017018302   ⟹   XP_016873791
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381178,478,438 - 78,574,864 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047427591   ⟹   XP_047283547
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381178,443,672 - 78,574,864 (-)NCBI
RefSeq Acc Id: XM_047427592   ⟹   XP_047283548
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381178,443,672 - 78,574,864 (-)NCBI
RefSeq Acc Id: XM_047427593   ⟹   XP_047283549
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381178,443,672 - 78,574,864 (-)NCBI
RefSeq Acc Id: XM_047427594   ⟹   XP_047283550
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381178,465,974 - 78,574,864 (-)NCBI
RefSeq Acc Id: XM_047427595   ⟹   XP_047283551
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381178,469,247 - 78,574,864 (-)NCBI
Reference Sequences
RefSeq Acc Id: NP_078954   ⟸   NM_024678
- Peptide Label: isoform 1 precursor
- UniProtKB: G3V178 (UniProtKB/Swiss-Prot),   Q96I59 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001230180   ⟸   NM_001243251
- Peptide Label: isoform 2
- UniProtKB: Q96I59 (UniProtKB/Swiss-Prot),   B3KPX5 (UniProtKB/TrEMBL),   Q9H5H1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011543555   ⟸   XM_011545253
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016873791   ⟸   XM_017018302
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: ENSP00000281038   ⟸   ENST00000281038
RefSeq Acc Id: ENSP00000436114   ⟸   ENST00000525345
RefSeq Acc Id: ENSP00000432635   ⟸   ENST00000528850
RefSeq Acc Id: ENSP00000435298   ⟸   ENST00000529771
RefSeq Acc Id: ENSP00000433478   ⟸   ENST00000529571
RefSeq Acc Id: ENSP00000432240   ⟸   ENST00000529880
RefSeq Acc Id: ENSP00000511818   ⟸   ENST00000695343
RefSeq Acc Id: ENSP00000511824   ⟸   ENST00000695349
RefSeq Acc Id: ENSP00000511833   ⟸   ENST00000695358
RefSeq Acc Id: ENSP00000511827   ⟸   ENST00000695352
RefSeq Acc Id: ENSP00000511830   ⟸   ENST00000695355
RefSeq Acc Id: ENSP00000511825   ⟸   ENST00000695350
RefSeq Acc Id: ENSP00000511836   ⟸   ENST00000695361
RefSeq Acc Id: ENSP00000511831   ⟸   ENST00000695356
RefSeq Acc Id: ENSP00000511826   ⟸   ENST00000695351
RefSeq Acc Id: ENSP00000511834   ⟸   ENST00000695359
RefSeq Acc Id: ENSP00000511819   ⟸   ENST00000695344
RefSeq Acc Id: ENSP00000511828   ⟸   ENST00000695353
RefSeq Acc Id: ENSP00000511817   ⟸   ENST00000695342
RefSeq Acc Id: ENSP00000511822   ⟸   ENST00000695347
RefSeq Acc Id: ENSP00000511835   ⟸   ENST00000695360
RefSeq Acc Id: ENSP00000511829   ⟸   ENST00000695354
RefSeq Acc Id: ENSP00000511821   ⟸   ENST00000695346
RefSeq Acc Id: ENSP00000511816   ⟸   ENST00000695341
RefSeq Acc Id: ENSP00000511820   ⟸   ENST00000695345
RefSeq Acc Id: ENSP00000511838   ⟸   ENST00000695366
RefSeq Acc Id: ENSP00000511706   ⟸   ENST00000695116
RefSeq Acc Id: ENSP00000511832   ⟸   ENST00000695357
RefSeq Acc Id: ENSP00000511823   ⟸   ENST00000695348
RefSeq Acc Id: ENSP00000511837   ⟸   ENST00000695362
RefSeq Acc Id: ENSP00000511705   ⟸   ENST00000695115
RefSeq Acc Id: XP_047283549   ⟸   XM_047427593
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047283548   ⟸   XM_047427592
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047283547   ⟸   XM_047427591
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047283550   ⟸   XM_047427594
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047283551   ⟸   XM_047427595
- Peptide Label: isoform X4
Protein Domains
AA_TRNA_LIGASE_II   OB   tRNA-synt_2

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q96I59-F1-model_v2 AlphaFold Q96I59 1-477 view protein structure

Promoters
RGD ID:6789152
Promoter ID:HG_KWN:13815
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_024678,   NR_027479
Position:
Human AssemblyChrPosition (strand)Source
Build 361177,963,391 - 77,963,892 (-)MPROMDB
RGD ID:7221681
Promoter ID:EPDNEW_H16586
Type:initiation region
Name:NARS2_1
Description:asparaginyl-tRNA synthetase 2, mitochondrial
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381178,574,795 - 78,574,855EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_024678.6(NARS2):c.1026+195A>G single nucleotide variant not provided [RCV001581912] Chr11:78469052 [GRCh38]
Chr11:78180098 [GRCh37]
Chr11:11q14.1
likely benign
GRCh38/hg38 11q13.4-14.1(chr11:71923251-79662025)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052684]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052684]|See cases [RCV000052684] Chr11:71923251..79662025 [GRCh38]
Chr11:71634297..79373069 [GRCh37]
Chr11:71311945..79050717 [NCBI36]
Chr11:11q13.4-14.1
pathogenic
GRCh38/hg38 11q14.1-22.3(chr11:78232836-106779420)x1 copy number loss See cases [RCV000052710] Chr11:78232836..106779420 [GRCh38]
Chr11:77943882..106650146 [GRCh37]
Chr11:77621530..106155356 [NCBI36]
Chr11:11q14.1-22.3
pathogenic
GRCh38/hg38 11q14.1-14.2(chr11:78362208-86165380)x3 copy number gain See cases [RCV000053637] Chr11:78362208..86165380 [GRCh38]
Chr11:78073254..85876422 [GRCh37]
Chr11:77750902..85554070 [NCBI36]
Chr11:11q14.1-14.2
pathogenic
Single allele deletion Intellectual disability [RCV001293382] Chr11:118359328..118372573 [GRCh37]
Chr11:11p15.3-q23.3
pathogenic
NM_024678.6(NARS2):c.847A>G (p.Thr283Ala) single nucleotide variant Combined oxidative phosphorylation defect type 24 [RCV001331335] Chr11:78478659 [GRCh38]
Chr11:78189705 [GRCh37]
Chr11:11q14.1
uncertain significance
GRCh38/hg38 11q13.5-22.1(chr11:75941754-98357960)x1 copy number loss See cases [RCV000133838] Chr11:75941754..98357960 [GRCh38]
Chr11:75652798..98228688 [GRCh37]
Chr11:75330446..97733898 [NCBI36]
Chr11:11q13.5-22.1
pathogenic
NM_024678.6(NARS2):c.822G>C (p.Gln274His) single nucleotide variant Combined oxidative phosphorylation defect type 24 [RCV000162034] Chr11:78493063 [GRCh38]
Chr11:78204109 [GRCh37]
Chr11:11q14.1
pathogenic|not provided
NM_024678.6(NARS2):c.641C>T (p.Pro214Leu) single nucleotide variant Combined oxidative phosphorylation defect type 24 [RCV000162035] Chr11:78528890 [GRCh38]
Chr11:78239936 [GRCh37]
Chr11:11q14.1
pathogenic|not provided
NM_024678.6(NARS2):c.1026+183C>T single nucleotide variant not provided [RCV001575738] Chr11:78469064 [GRCh38]
Chr11:78180110 [GRCh37]
Chr11:11q14.1
likely benign
NM_024678.6(NARS2):c.*140dup duplication not provided [RCV001571180] Chr11:78436529..78436530 [GRCh38]
Chr11:78147575..78147576 [GRCh37]
Chr11:11q14.1
likely benign
NM_024678.6(NARS2):c.514-3C>T single nucleotide variant not provided [RCV001860308]|not specified [RCV000599857] Chr11:78559622 [GRCh38]
Chr11:78270668 [GRCh37]
Chr11:11q14.1
likely benign|uncertain significance
NM_024678.6(NARS2):c.1026+10del deletion not specified [RCV000603423] Chr11:78469237 [GRCh38]
Chr11:78180283 [GRCh37]
Chr11:11q14.1
likely benign
NM_024678.6(NARS2):c.822+2T>G single nucleotide variant not provided [RCV000367898] Chr11:78493061 [GRCh38]
Chr11:78204107 [GRCh37]
Chr11:11q14.1
pathogenic
NM_024678.6(NARS2):c.844G>A (p.Ala282Thr) single nucleotide variant Hearing loss, autosomal recessive 94 [RCV001331334]|not provided [RCV000404191] Chr11:78478662 [GRCh38]
Chr11:78189708 [GRCh37]
Chr11:11q14.1
uncertain significance
NM_024678.6(NARS2):c.749G>A (p.Arg250Gln) single nucleotide variant not provided [RCV000489785] Chr11:78493136 [GRCh38]
Chr11:78204182 [GRCh37]
Chr11:11q14.1
likely pathogenic|uncertain significance
NM_024678.6(NARS2):c.251+307C>T single nucleotide variant not provided [RCV001571942] Chr11:78571028 [GRCh38]
Chr11:78282073 [GRCh37]
Chr11:11q14.1
likely benign
NM_024678.6(NARS2):c.688G>C (p.Gly230Arg) single nucleotide variant not provided [RCV000490045] Chr11:78528843 [GRCh38]
Chr11:78239889 [GRCh37]
Chr11:11q14.1
uncertain significance
NM_024678.6(NARS2):c.151C>T (p.Arg51Cys) single nucleotide variant Combined oxidative phosphorylation defect type 24 [RCV000779619]|not provided [RCV000656263] Chr11:78571435 [GRCh38]
Chr11:78282480 [GRCh37]
Chr11:11q14.1
pathogenic|likely pathogenic|uncertain significance
NM_024678.6(NARS2):c.390T>A (p.Tyr130Ter) single nucleotide variant not provided [RCV000722484] Chr11:78566255 [GRCh38]
Chr11:78277301 [GRCh37]
Chr11:11q14.1
uncertain significance
NM_024678.6(NARS2):c.423A>G (p.Gln141=) single nucleotide variant not provided [RCV000968227]|not specified [RCV000423779] Chr11:78566222 [GRCh38]
Chr11:78277268 [GRCh37]
Chr11:11q14.1
benign|likely benign
NM_024678.6(NARS2):c.-22G>A single nucleotide variant not specified [RCV000434198] Chr11:78574510 [GRCh38]
Chr11:78285555 [GRCh37]
Chr11:11q14.1
likely benign
NM_024678.6(NARS2):c.1289+7A>G single nucleotide variant not provided [RCV000894427]|not specified [RCV000441423] Chr11:78441084 [GRCh38]
Chr11:78152130 [GRCh37]
Chr11:11q14.1
benign|likely benign
NM_024678.6(NARS2):c.174A>G (p.Glu58=) single nucleotide variant not provided [RCV000904509]|not specified [RCV000441433] Chr11:78571412 [GRCh38]
Chr11:78282457 [GRCh37]
Chr11:11q14.1
benign|likely benign
NM_024678.6(NARS2):c.-342T>A single nucleotide variant not specified [RCV000434362] Chr11:78574830 [GRCh38]
Chr11:78285875 [GRCh37]
Chr11:11q14.1
benign
NM_024678.6(NARS2):c.1095C>T (p.Phe365=) single nucleotide variant not provided [RCV000899230] Chr11:78465945 [GRCh38]
Chr11:78176991 [GRCh37]
Chr11:11q14.1
benign|likely benign
NM_024678.6(NARS2):c.142-20G>C single nucleotide variant not provided [RCV002059604]|not specified [RCV000437938] Chr11:78571464 [GRCh38]
Chr11:78282509 [GRCh37]
Chr11:11q14.1
benign|likely benign
NM_024678.6(NARS2):c.*4G>A single nucleotide variant not provided [RCV001703664] Chr11:78436666 [GRCh38]
Chr11:78147712 [GRCh37]
Chr11:11q14.1
benign|likely benign
NM_024678.6(NARS2):c.252-5T>C single nucleotide variant not provided [RCV000969264]|not specified [RCV000427632] Chr11:78568757 [GRCh38]
Chr11:78279803 [GRCh37]
Chr11:11q14.1
benign
NM_024678.6(NARS2):c.252-3T>A single nucleotide variant not provided [RCV000969263]|not specified [RCV000434809] Chr11:78568755 [GRCh38]
Chr11:78279801 [GRCh37]
Chr11:11q14.1
benign
NM_024678.6(NARS2):c.1262+6G>A single nucleotide variant not provided [RCV001703672] Chr11:78443655 [GRCh38]
Chr11:78154701 [GRCh37]
Chr11:11q14.1
likely benign|conflicting interpretations of pathogenicity
NM_024678.6(NARS2):c.899A>G (p.Lys300Arg) single nucleotide variant not provided [RCV000992453]|not specified [RCV000428174] Chr11:78478607 [GRCh38]
Chr11:78189653 [GRCh37]
Chr11:11q14.1
benign
NM_024678.6(NARS2):c.-32C>T single nucleotide variant not specified [RCV000428495] Chr11:78574520 [GRCh38]
Chr11:78285565 [GRCh37]
Chr11:11q14.1
likely benign
NM_024678.6(NARS2):c.513+15G>A single nucleotide variant not provided [RCV002062439]|not specified [RCV000425134] Chr11:78566117 [GRCh38]
Chr11:78277163 [GRCh37]
Chr11:11q14.1
benign|likely benign
NM_024678.6(NARS2):c.47C>T (p.Ser16Phe) single nucleotide variant not provided [RCV000426496] Chr11:78574442 [GRCh38]
Chr11:78285487 [GRCh37]
Chr11:11q14.1
uncertain significance
NM_024678.6(NARS2):c.418C>T (p.Arg140Ter) single nucleotide variant not provided [RCV000428736] Chr11:78566227 [GRCh38]
Chr11:78277273 [GRCh37]
Chr11:11q14.1
pathogenic|likely pathogenic
NM_024678.6(NARS2):c.306A>G (p.Pro102=) single nucleotide variant not provided [RCV000992452]|not specified [RCV000432890] Chr11:78568698 [GRCh38]
Chr11:78279744 [GRCh37]
Chr11:11q14.1
benign
NM_024678.6(NARS2):c.727C>T (p.Arg243Ter) single nucleotide variant Hearing loss, autosomal recessive 94 [RCV001270100]|not provided [RCV000431641] Chr11:78493158 [GRCh38]
Chr11:78204204 [GRCh37]
Chr11:11q14.1
pathogenic|likely pathogenic
NM_024678.6(NARS2):c.-27C>A single nucleotide variant not specified [RCV000422586] Chr11:78574515 [GRCh38]
Chr11:78285560 [GRCh37]
Chr11:11q14.1
benign
NM_024678.6(NARS2):c.414T>C (p.Tyr138=) single nucleotide variant Combined oxidative phosphorylation defect type 24 [RCV001778960]|Hearing loss, autosomal recessive 94 [RCV001778961]|not provided [RCV002062281]|not specified [RCV000426158] Chr11:78566231 [GRCh38]
Chr11:78277277 [GRCh37]
Chr11:11q14.1
benign
NM_024678.6(NARS2):c.-25C>G single nucleotide variant not specified [RCV000429907] Chr11:78574513 [GRCh38]
Chr11:78285558 [GRCh37]
Chr11:11q14.1
likely benign
NM_024678.6(NARS2):c.26G>C (p.Arg9Pro) single nucleotide variant not provided [RCV000969265]|not specified [RCV000433331] Chr11:78574463 [GRCh38]
Chr11:78285508 [GRCh37]
Chr11:11q14.1
benign
NM_024678.6(NARS2):c.506T>A (p.Phe169Tyr) single nucleotide variant not provided [RCV000434134] Chr11:78566139 [GRCh38]
Chr11:78277185 [GRCh37]
Chr11:11q14.1
uncertain significance
NM_024678.6(NARS2):c.720G>A (p.Pro240=) single nucleotide variant not provided [RCV000959207]|not specified [RCV000436998] Chr11:78493165 [GRCh38]
Chr11:78204211 [GRCh37]
Chr11:11q14.1
benign
NM_024678.6(NARS2):c.260A>C (p.Asn87Thr) single nucleotide variant Combined oxidative phosphorylation defect type 24 [RCV000988620]|Hearing loss, autosomal recessive 94 [RCV001778959]|not provided [RCV002062280]|not specified [RCV000444244] Chr11:78568744 [GRCh38]
Chr11:78279790 [GRCh37]
Chr11:11q14.1
benign
NM_024678.6(NARS2):c.167A>G (p.Gln56Arg) single nucleotide variant Combined oxidative phosphorylation defect type 24 [RCV000779615]|not provided [RCV000481204] Chr11:78571419 [GRCh38]
Chr11:78282464 [GRCh37]
Chr11:11q14.1
pathogenic|likely pathogenic|uncertain significance
NM_024678.6(NARS2):c.631T>A (p.Phe211Ile) single nucleotide variant Combined oxidative phosphorylation defect type 24 [RCV000779616]|not provided [RCV000481783] Chr11:78528900 [GRCh38]
Chr11:78239946 [GRCh37]
Chr11:11q14.1
pathogenic|likely pathogenic
NM_024678.6(NARS2):c.124del (p.Glu42fs) deletion not provided [RCV000482038] Chr11:78574365 [GRCh38]
Chr11:78285410 [GRCh37]
Chr11:11q14.1
likely pathogenic
NM_024678.6(NARS2):c.595-6T>G single nucleotide variant Combined oxidative phosphorylation defect type 24 [RCV000509099] Chr11:78528942 [GRCh38]
Chr11:78239988 [GRCh37]
Chr11:11q14.1
not provided
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
NM_024678.6(NARS2):c.822+12A>G single nucleotide variant not provided [RCV001704728] Chr11:78493051 [GRCh38]
Chr11:78204097 [GRCh37]
Chr11:11q14.1
likely benign
NM_024678.6(NARS2):c.10del (p.Val4fs) deletion Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV000626110] Chr11:78574479 [GRCh38]
Chr11:78285524 [GRCh37]
Chr11:11q14.1
pathogenic
NM_024678.6(NARS2):c.369C>T (p.Ala123=) single nucleotide variant not provided [RCV000925897]|not specified [RCV000606586] Chr11:78568635 [GRCh38]
Chr11:78279681 [GRCh37]
Chr11:11q14.1
benign|likely benign
NM_024678.6(NARS2):c.990A>G (p.Leu330=) single nucleotide variant not specified [RCV000608803] Chr11:78469283 [GRCh38]
Chr11:78180329 [GRCh37]
Chr11:11q14.1
likely benign
NM_024678.6(NARS2):c.-38T>C single nucleotide variant not specified [RCV000614435] Chr11:78574526 [GRCh38]
Chr11:78285571 [GRCh37]
Chr11:11q14.1
likely benign
NM_024678.6(NARS2):c.450C>T (p.Asn150=) single nucleotide variant not provided [RCV000899514]|not specified [RCV000614498] Chr11:78566195 [GRCh38]
Chr11:78277241 [GRCh37]
Chr11:11q14.1
likely benign
NM_024678.6(NARS2):c.1306C>G (p.Arg436Gly) single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV000626109] Chr11:78436798 [GRCh38]
Chr11:78147844 [GRCh37]
Chr11:11q14.1
pathogenic|uncertain significance
GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3 copy number gain not provided [RCV000683374] Chr11:71588805..116680918 [GRCh37]
Chr11:11q13.4-23.3
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
NM_024678.6(NARS2):c.1291T>C (p.Tyr431His) single nucleotide variant Combined oxidative phosphorylation defect type 24 [RCV001724760]|not provided [RCV002267119] Chr11:78436813 [GRCh38]
Chr11:78147859 [GRCh37]
Chr11:11q14.1
likely pathogenic|uncertain significance
NM_024678.6(NARS2):c.1165-162A>G single nucleotide variant not provided [RCV001612703] Chr11:78443920 [GRCh38]
Chr11:78154966 [GRCh37]
Chr11:11q14.1
benign
NM_024678.6(NARS2):c.142-143A>G single nucleotide variant not provided [RCV001667733] Chr11:78571587 [GRCh38]
Chr11:78282632 [GRCh37]
Chr11:11q14.1
benign
NM_024678.6(NARS2):c.1026+114T>C single nucleotide variant not provided [RCV001647978] Chr11:78469133 [GRCh38]
Chr11:78180179 [GRCh37]
Chr11:11q14.1
benign
NM_024678.6(NARS2):c.690-139G>A single nucleotide variant not provided [RCV001662981] Chr11:78493334 [GRCh38]
Chr11:78204380 [GRCh37]
Chr11:11q14.1
benign
NM_024678.6(NARS2):c.309C>G (p.Ser103=) single nucleotide variant not provided [RCV000881366] Chr11:78568695 [GRCh38]
Chr11:78279741 [GRCh37]
Chr11:11q14.1
likely benign
NM_024678.6(NARS2):c.1008C>G (p.Asn336Lys) single nucleotide variant not provided [RCV000921540] Chr11:78469265 [GRCh38]
Chr11:78180311 [GRCh37]
Chr11:11q14.1
likely benign
NM_024678.6(NARS2):c.25C>T (p.Arg9Trp) single nucleotide variant not provided [RCV000901687] Chr11:78574464 [GRCh38]
Chr11:78285509 [GRCh37]
Chr11:11q14.1
likely benign
NM_024678.6(NARS2):c.822+7A>G single nucleotide variant not provided [RCV000906402] Chr11:78493056 [GRCh38]
Chr11:78204102 [GRCh37]
Chr11:11q14.1
likely benign
NM_024678.6(NARS2):c.1132A>C (p.Met378Leu) single nucleotide variant not provided [RCV000904575] Chr11:78465908 [GRCh38]
Chr11:78176954 [GRCh37]
Chr11:11q14.1
likely benign
NM_024678.6(NARS2):c.561C>T (p.Asp187=) single nucleotide variant not provided [RCV000927167] Chr11:78559572 [GRCh38]
Chr11:78270618 [GRCh37]
Chr11:11q14.1
likely benign
NM_024678.6(NARS2):c.637G>T (p.Val213Phe) single nucleotide variant Hearing loss, autosomal recessive 94 [RCV000779614] Chr11:78528894 [GRCh38]
Chr11:78239940 [GRCh37]
Chr11:11q14.1
pathogenic|likely pathogenic
NM_024678.6(NARS2):c.969T>A (p.Tyr323Ter) single nucleotide variant Combined oxidative phosphorylation defect type 24 [RCV000779611]|not provided [RCV001784392] Chr11:78469304 [GRCh38]
Chr11:78180350 [GRCh37]
Chr11:11q14.1
pathogenic|likely pathogenic
NM_024678.6(NARS2):c.1142A>G (p.Asn381Ser) single nucleotide variant Combined oxidative phosphorylation defect type 24 [RCV000779612] Chr11:78465898 [GRCh38]
Chr11:78176944 [GRCh37]
Chr11:11q14.1
pathogenic|likely pathogenic
NM_024678.6(NARS2):c.594+1G>A single nucleotide variant Combined oxidative phosphorylation defect type 24 [RCV000779613] Chr11:78559538 [GRCh38]
Chr11:78270584 [GRCh37]
Chr11:11q14.1
pathogenic
NM_024678.6(NARS2):c.707T>G (p.Phe236Cys) single nucleotide variant Combined oxidative phosphorylation defect type 24 [RCV000779617] Chr11:78493178 [GRCh38]
Chr11:78204224 [GRCh37]
Chr11:11q14.1
pathogenic
NM_024678.6(NARS2):c.500A>G (p.His167Arg) single nucleotide variant Combined oxidative phosphorylation defect type 24 [RCV000779620]|not provided [RCV001856178] Chr11:78566145 [GRCh38]
Chr11:78277191 [GRCh37]
Chr11:11q14.1
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_024678.6(NARS2):c.45C>T (p.Ser15=) single nucleotide variant not provided [RCV000899147] Chr11:78574444 [GRCh38]
Chr11:78285489 [GRCh37]
Chr11:11q14.1
likely benign
NM_024678.6(NARS2):c.1042C>T (p.Arg348Trp) single nucleotide variant not provided [RCV000974267] Chr11:78465998 [GRCh38]
Chr11:78177044 [GRCh37]
Chr11:11q14.1
likely benign
NM_024678.6(NARS2):c.1082A>G (p.Asn361Ser) single nucleotide variant not provided [RCV000968952]|not specified [RCV001731997] Chr11:78465958 [GRCh38]
Chr11:78177004 [GRCh37]
Chr11:11q14.1
benign|likely benign
NM_024678.6(NARS2):c.252-4A>G single nucleotide variant not provided [RCV000983350] Chr11:78568756 [GRCh38]
Chr11:78279802 [GRCh37]
Chr11:11q14.1
likely benign
NM_024678.6(NARS2):c.1184T>G (p.Leu395Arg) single nucleotide variant Combined oxidative phosphorylation defect type 24 [RCV000779618] Chr11:78443739 [GRCh38]
Chr11:78154785 [GRCh37]
Chr11:11q14.1
pathogenic
NM_024678.6(NARS2):c.513+20C>T single nucleotide variant not provided [RCV000842641] Chr11:78566112 [GRCh38]
Chr11:78277158 [GRCh37]
Chr11:11q14.1
likely benign
NM_024678.6(NARS2):c.492T>C (p.Ala164=) single nucleotide variant not provided [RCV000842650] Chr11:78566153 [GRCh38]
Chr11:78277199 [GRCh37]
Chr11:11q14.1
benign|likely benign
NM_024678.6(NARS2):c.141+297A>C single nucleotide variant not provided [RCV000842795] Chr11:78574051 [GRCh38]
Chr11:78285096 [GRCh37]
Chr11:11q14.1
benign
NM_024678.6(NARS2):c.594+281T>C single nucleotide variant not provided [RCV000842797] Chr11:78559258 [GRCh38]
Chr11:78270304 [GRCh37]
Chr11:11q14.1
benign
NM_024678.6(NARS2):c.690-320T>C single nucleotide variant not provided [RCV000842798] Chr11:78493515 [GRCh38]
Chr11:78204561 [GRCh37]
Chr11:11q14.1
benign
NM_024678.6(NARS2):c.1165-286T>C single nucleotide variant not provided [RCV000842799] Chr11:78444044 [GRCh38]
Chr11:78155090 [GRCh37]
Chr11:11q14.1
benign
NM_024678.6(NARS2):c.1165-282A>G single nucleotide variant not provided [RCV000842800] Chr11:78444040 [GRCh38]
Chr11:78155086 [GRCh37]
Chr11:11q14.1
benign
NM_024678.6(NARS2):c.1026+260G>A single nucleotide variant not provided [RCV000832461] Chr11:78468987 [GRCh38]
Chr11:78180033 [GRCh37]
Chr11:11q14.1
benign
NM_024678.6(NARS2):c.1253G>A (p.Arg418His) single nucleotide variant Combined oxidative phosphorylation defect type 24 [RCV000988619]|not provided [RCV001858696] Chr11:78443670 [GRCh38]
Chr11:78154716 [GRCh37]
Chr11:11q14.1
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_024678.6(NARS2):c.690-197C>T single nucleotide variant not provided [RCV000831791] Chr11:78493392 [GRCh38]
Chr11:78204438 [GRCh37]
Chr11:11q14.1
benign
NM_024678.6(NARS2):c.1027-82T>C single nucleotide variant not provided [RCV000831792] Chr11:78466095 [GRCh38]
Chr11:78177141 [GRCh37]
Chr11:11q14.1
benign
NM_024678.6(NARS2):c.1290-53A>G single nucleotide variant not provided [RCV000836227] Chr11:78436867 [GRCh38]
Chr11:78147913 [GRCh37]
Chr11:11q14.1
likely benign
NM_024678.6(NARS2):c.959+273_959+274del deletion not provided [RCV000832460] Chr11:78478164..78478165 [GRCh38]
Chr11:78189210..78189211 [GRCh37]
Chr11:11q14.1
benign
NM_024678.6(NARS2):c.690-165G>A single nucleotide variant not provided [RCV000826409] Chr11:78493360 [GRCh38]
Chr11:78204406 [GRCh37]
Chr11:11q14.1
benign
NM_024678.6(NARS2):c.1027-265G>T single nucleotide variant not provided [RCV000830713] Chr11:78466278 [GRCh38]
Chr11:78177324 [GRCh37]
Chr11:11q14.1
benign
NM_024678.6(NARS2):c.1098T>A (p.Val366=) single nucleotide variant not provided [RCV000897770] Chr11:78465942 [GRCh38]
Chr11:78176988 [GRCh37]
Chr11:11q14.1
likely benign
NM_024678.6(NARS2):c.142-227C>T single nucleotide variant not provided [RCV000826393] Chr11:78571671 [GRCh38]
Chr11:78282716 [GRCh37]
Chr11:11q14.1
benign
NM_024678.6(NARS2):c.689+101C>G single nucleotide variant not provided [RCV001564087] Chr11:78528741 [GRCh38]
Chr11:78239787 [GRCh37]
Chr11:11q14.1
likely benign
NM_024678.6(NARS2):c.122G>A (p.Gly41Glu) single nucleotide variant not provided [RCV000992451] Chr11:78574367 [GRCh38]
Chr11:78285412 [GRCh37]
Chr11:11q14.1
uncertain significance
NM_024678.6(NARS2):c.513+179A>G single nucleotide variant not provided [RCV001560749] Chr11:78565953 [GRCh38]
Chr11:78276999 [GRCh37]
Chr11:11q14.1
likely benign
NM_024678.6(NARS2):c.594+211_594+213dup duplication not provided [RCV001619738] Chr11:78559301..78559302 [GRCh38]
Chr11:78270347..78270348 [GRCh37]
Chr11:11q14.1
benign
NM_024678.6(NARS2):c.960-149T>G single nucleotide variant not provided [RCV001689025] Chr11:78469462 [GRCh38]
Chr11:78180508 [GRCh37]
Chr11:11q14.1
benign
NM_024678.6(NARS2):c.594+211_594+212dup duplication not provided [RCV001656162] Chr11:78559301..78559302 [GRCh38]
Chr11:78270347..78270348 [GRCh37]
Chr11:11q14.1
benign
NM_024678.6(NARS2):c.1262+157C>T single nucleotide variant not provided [RCV001587002] Chr11:78443504 [GRCh38]
Chr11:78154550 [GRCh37]
Chr11:11q14.1
likely benign
NM_024678.6(NARS2):c.1027-95G>A single nucleotide variant not provided [RCV001551600] Chr11:78466108 [GRCh38]
Chr11:78177154 [GRCh37]
Chr11:11q14.1
likely benign
NM_024678.6(NARS2):c.513+96T>A single nucleotide variant not provided [RCV001570350] Chr11:78566036 [GRCh38]
Chr11:78277082 [GRCh37]
Chr11:11q14.1
likely benign
NM_024678.6(NARS2):c.251+232T>C single nucleotide variant not provided [RCV001696302] Chr11:78571103 [GRCh38]
Chr11:78282148 [GRCh37]
Chr11:11q14.1
benign
NM_024678.6(NARS2):c.252-213_252-209del deletion not provided [RCV001546784] Chr11:78568961..78568965 [GRCh38]
Chr11:78280007..78280011 [GRCh37]
Chr11:11q14.1
likely benign
NM_024678.6(NARS2):c.594+1G>C single nucleotide variant not provided [RCV001574574] Chr11:78559538 [GRCh38]
Chr11:78270584 [GRCh37]
Chr11:11q14.1
uncertain significance
NM_024678.6(NARS2):c.921+10T>G single nucleotide variant not provided [RCV000930473] Chr11:78478575 [GRCh38]
Chr11:78189621 [GRCh37]
Chr11:11q14.1
likely benign
NM_024678.6(NARS2):c.333G>A (p.Lys111=) single nucleotide variant not provided [RCV000931244] Chr11:78568671 [GRCh38]
Chr11:78279717 [GRCh37]
Chr11:11q14.1
likely benign
NM_024678.6(NARS2):c.1014C>T (p.Thr338=) single nucleotide variant not provided [RCV000908196] Chr11:78469259 [GRCh38]
Chr11:78180305 [GRCh37]
Chr11:11q14.1
likely benign
NM_024678.6(NARS2):c.1361A>G (p.Gln454Arg) single nucleotide variant Combined oxidative phosphorylation defect type 24 [RCV001225311] Chr11:78436743 [GRCh38]
Chr11:78147789 [GRCh37]
Chr11:11q14.1
uncertain significance
NM_024678.6(NARS2):c.311A>G (p.Lys104Arg) single nucleotide variant not provided [RCV000912050] Chr11:78568693 [GRCh38]
Chr11:78279739 [GRCh37]
Chr11:11q14.1
benign
Single allele single nucleotide variant not provided [RCV001558162] Chr11:78574914 [GRCh38]
Chr11:78285959 [GRCh37]
Chr11:11q14.1
likely benign
NM_024678.6(NARS2):c.594+211_594+214dup duplication not provided [RCV001553341] Chr11:78559301..78559302 [GRCh38]
Chr11:78270347..78270348 [GRCh37]
Chr11:11q14.1
likely benign
NM_024678.6(NARS2):c.251+29T>C single nucleotide variant not provided [RCV001555693] Chr11:78571306 [GRCh38]
Chr11:78282351 [GRCh37]
Chr11:11q14.1
likely benign
NM_024678.6(NARS2):c.252-238T>A single nucleotide variant not provided [RCV001566666] Chr11:78568990 [GRCh38]
Chr11:78280036 [GRCh37]
Chr11:11q14.1
likely benign
NM_024678.6(NARS2):c.788T>C (p.Ile263Thr) single nucleotide variant not provided [RCV001550649] Chr11:78493097 [GRCh38]
Chr11:78204143 [GRCh37]
Chr11:11q14.1
likely pathogenic
NM_024678.6(NARS2):c.1306C>T (p.Arg436Ter) single nucleotide variant not provided [RCV001008682] Chr11:78436798 [GRCh38]
Chr11:78147844 [GRCh37]
Chr11:11q14.1
likely pathogenic
NM_024678.6(NARS2):c.*199C>T single nucleotide variant not provided [RCV001654468] Chr11:78436471 [GRCh38]
Chr11:78147517 [GRCh37]
Chr11:11q14.1
benign
NM_024678.6(NARS2):c.1165-88C>T single nucleotide variant not provided [RCV001678299] Chr11:78443846 [GRCh38]
Chr11:78154892 [GRCh37]
Chr11:11q14.1
benign
NM_024678.6(NARS2):c.690-61dup duplication not provided [RCV001637448] Chr11:78493253..78493254 [GRCh38]
Chr11:78204299..78204300 [GRCh37]
Chr11:11q14.1
benign
NM_024678.6(NARS2):c.-267C>G single nucleotide variant not provided [RCV001545113] Chr11:78574755 [GRCh38]
Chr11:78285800 [GRCh37]
Chr11:11q14.1
likely benign
NM_024678.6(NARS2):c.514-287T>C single nucleotide variant not provided [RCV001594087] Chr11:78559906 [GRCh38]
Chr11:78270952 [GRCh37]
Chr11:11q14.1
likely benign
NM_024678.6(NARS2):c.72T>G (p.Pro24=) single nucleotide variant not provided [RCV001571991] Chr11:78574417 [GRCh38]
Chr11:78285462 [GRCh37]
Chr11:11q14.1
likely benign
NM_024678.6(NARS2):c.1026+94del deletion not provided [RCV001587130] Chr11:78469153 [GRCh38]
Chr11:78180199 [GRCh37]
Chr11:11q14.1
likely benign
NM_024678.6(NARS2):c.960-148T>A single nucleotide variant not provided [RCV001696715] Chr11:78469461 [GRCh38]
Chr11:78180507 [GRCh37]
Chr11:11q14.1
benign
NM_024678.6(NARS2):c.251+254C>T single nucleotide variant not provided [RCV001678661] Chr11:78571081 [GRCh38]
Chr11:78282126 [GRCh37]
Chr11:11q14.1
benign
NM_024678.6(NARS2):c.595-237T>A single nucleotide variant not provided [RCV001609242] Chr11:78529173 [GRCh38]
Chr11:78240219 [GRCh37]
Chr11:11q14.1
benign
NM_024678.6(NARS2):c.1289+249T>C single nucleotide variant not provided [RCV001534300] Chr11:78440842 [GRCh38]
Chr11:78151888 [GRCh37]
Chr11:11q14.1
benign
NM_024678.6(NARS2):c.141+134G>T single nucleotide variant not provided [RCV001609856] Chr11:78574214 [GRCh38]
Chr11:78285259 [GRCh37]
Chr11:11q14.1
benign
NM_024678.6(NARS2):c.690-79G>A single nucleotide variant not provided [RCV001589376] Chr11:78493274 [GRCh38]
Chr11:78204320 [GRCh37]
Chr11:11q14.1
likely benign
NM_024678.6(NARS2):c.690-225G>A single nucleotide variant not provided [RCV001583695] Chr11:78493420 [GRCh38]
Chr11:78204466 [GRCh37]
Chr11:11q14.1
likely benign
NM_024678.6(NARS2):c.959+244_959+247del deletion not provided [RCV001547676] Chr11:78478191..78478194 [GRCh38]
Chr11:78189237..78189240 [GRCh37]
Chr11:11q14.1
likely benign
NM_024678.6(NARS2):c.252-171C>T single nucleotide variant not provided [RCV001684717] Chr11:78568923 [GRCh38]
Chr11:78279969 [GRCh37]
Chr11:11q14.1
benign
NM_024678.6(NARS2):c.545T>A (p.Ile182Lys) single nucleotide variant Combined oxidative phosphorylation defect type 24 [RCV001261537] Chr11:78559588 [GRCh38]
Chr11:78270634 [GRCh37]
Chr11:11q14.1
pathogenic|uncertain significance
NM_024678.6(NARS2):c.1027-253G>C single nucleotide variant not provided [RCV001575687] Chr11:78466266 [GRCh38]
Chr11:78177312 [GRCh37]
Chr11:11q14.1
likely benign
NM_024678.6(NARS2):c.1262+97C>T single nucleotide variant not provided [RCV001527954] Chr11:78443564 [GRCh38]
Chr11:78154610 [GRCh37]
Chr11:11q14.1
benign
NM_024678.6(NARS2):c.5T>C (p.Leu2Pro) single nucleotide variant Inborn genetic diseases [RCV001266149] Chr11:78574484 [GRCh38]
Chr11:78285529 [GRCh37]
Chr11:11q14.1
uncertain significance
NM_024678.6(NARS2):c.141+5G>C single nucleotide variant Combined oxidative phosphorylation defect type 24 [RCV001336121] Chr11:78574343 [GRCh38]
Chr11:78285388 [GRCh37]
Chr11:11q14.1
uncertain significance
NM_024678.6(NARS2):c.640C>A (p.Pro214Thr) single nucleotide variant Combined oxidative phosphorylation defect type 24 [RCV001336123]|not provided [RCV001797173] Chr11:78528891 [GRCh38]
Chr11:78239937 [GRCh37]
Chr11:11q14.1
uncertain significance
NC_000011.9:g.(?_78239888)_(78369861_?)dup duplication not provided [RCV001338412] Chr11:78239888..78369861 [GRCh37]
Chr11:11q14.1
uncertain significance
NM_024678.6(NARS2):c.1339A>G (p.Met447Val) single nucleotide variant Sensorineural hearing loss disorder [RCV001353197] Chr11:78436765 [GRCh38]
Chr11:78147811 [GRCh37]
Chr11:11q14.1
likely pathogenic
NM_024678.6(NARS2):c.606_607insAGC (p.Lys202_Leu203insSer) insertion Combined oxidative phosphorylation defect type 24 [RCV001329996] Chr11:78528924..78528925 [GRCh38]
Chr11:78239970..78239971 [GRCh37]
Chr11:11q14.1
uncertain significance
NM_024678.6(NARS2):c.1303C>T (p.Arg435Cys) single nucleotide variant Combined oxidative phosphorylation defect type 24 [RCV001329995] Chr11:78436801 [GRCh38]
Chr11:78147847 [GRCh37]
Chr11:11q14.1
uncertain significance
NM_024678.6(NARS2):c.436A>G (p.Arg146Gly) single nucleotide variant Combined oxidative phosphorylation defect type 24 [RCV001336122] Chr11:78566209 [GRCh38]
Chr11:78277255 [GRCh37]
Chr11:11q14.1
uncertain significance
NM_024678.6(NARS2):c.513+21T>C single nucleotide variant not provided [RCV001590331] Chr11:78566111 [GRCh38]
Chr11:78277157 [GRCh37]
Chr11:11q14.1
likely benign
NM_024678.6(NARS2):c.1290-210A>G single nucleotide variant not provided [RCV001653210] Chr11:78437024 [GRCh38]
Chr11:78148070 [GRCh37]
Chr11:11q14.1
benign
NM_024678.6(NARS2):c.922-37A>G single nucleotide variant not provided [RCV001698902] Chr11:78478512 [GRCh38]
Chr11:78189558 [GRCh37]
Chr11:11q14.1
benign
NM_024678.6(NARS2):c.1164+114T>C single nucleotide variant not provided [RCV001716121] Chr11:78465762 [GRCh38]
Chr11:78176808 [GRCh37]
Chr11:11q14.1
benign
NM_024678.6(NARS2):c.822+30_822+35del deletion not provided [RCV001716237] Chr11:78493028..78493033 [GRCh38]
Chr11:78204074..78204079 [GRCh37]
Chr11:11q14.1
benign
NM_024678.6(NARS2):c.594+211dup duplication not provided [RCV001670155] Chr11:78559301..78559302 [GRCh38]
Chr11:78270347..78270348 [GRCh37]
Chr11:11q14.1
benign
Single allele deletion not provided [RCV001617684] Chr11:78575155..78575162 [GRCh38]
Chr11:78286200..78286207 [GRCh37]
Chr11:11q14.1
benign
NM_024678.6(NARS2):c.689+262A>T single nucleotide variant not provided [RCV001689449] Chr11:78528580 [GRCh38]
Chr11:78239626 [GRCh37]
Chr11:11q14.1
benign
NM_024678.6(NARS2):c.141+289C>A single nucleotide variant not provided [RCV001590164] Chr11:78574059 [GRCh38]
Chr11:78285104 [GRCh37]
Chr11:11q14.1
likely benign
NM_024678.6(NARS2):c.241C>G (p.Leu81Val) single nucleotide variant not provided [RCV002244462] Chr11:78571345 [GRCh38]
Chr11:78282390 [GRCh37]
Chr11:11q14.1
uncertain significance
NM_024678.6(NARS2):c.947del (p.Asn316fs) deletion Combined oxidative phosphorylation defect type 24 [RCV002238663] Chr11:78478450 [GRCh38]
Chr11:78189496 [GRCh37]
Chr11:11q14.1
likely pathogenic
NM_024678.6(NARS2):c.1141A>G (p.Asn381Asp) single nucleotide variant Combined oxidative phosphorylation defect type 24 [RCV002254491] Chr11:78465899 [GRCh38]
Chr11:78176945 [GRCh37]
Chr11:11q14.1
uncertain significance
NM_024678.6(NARS2):c.53C>T (p.Pro18Leu) single nucleotide variant not provided [RCV001772431] Chr11:78574436 [GRCh38]
Chr11:78285481 [GRCh37]
Chr11:11q14.1
uncertain significance
NM_024678.6(NARS2):c.206C>G (p.Ser69Cys) single nucleotide variant not provided [RCV001786200] Chr11:78571380 [GRCh38]
Chr11:78282425 [GRCh37]
Chr11:11q14.1
uncertain significance
NM_024678.6(NARS2):c.451G>A (p.Val151Ile) single nucleotide variant not provided [RCV001800094] Chr11:78566194 [GRCh38]
Chr11:78277240 [GRCh37]
Chr11:11q14.1
uncertain significance
NM_024678.6(NARS2):c.1236C>G (p.Tyr412Ter) single nucleotide variant not provided [RCV001784709] Chr11:78443687 [GRCh38]
Chr11:78154733 [GRCh37]
Chr11:11q14.1
pathogenic
GRCh37/hg19 11q14.1(chr11:78165386-78231070)x3 copy number gain not provided [RCV001795545] Chr11:78165386..78231070 [GRCh37]
Chr11:11q14.1
uncertain significance
NM_024678.6(NARS2):c.1385T>C (p.Ile462Thr) single nucleotide variant NARS2-related primary mitochondrial disorder [RCV001795572] Chr11:78436719 [GRCh38]
Chr11:78147765 [GRCh37]
Chr11:11q14.1
uncertain significance
NM_024678.6(NARS2):c.1096G>A (p.Val366Ile) single nucleotide variant not provided [RCV001815727] Chr11:78465944 [GRCh38]
Chr11:78176990 [GRCh37]
Chr11:11q14.1
uncertain significance
NM_024678.6(NARS2):c.840C>G (p.Phe280Leu) single nucleotide variant not provided [RCV001863967] Chr11:78478666 [GRCh38]
Chr11:78189712 [GRCh37]
Chr11:11q14.1
uncertain significance
NM_024678.6(NARS2):c.822+6704_959+1727del deletion Combined oxidative phosphorylation defect type 24 [RCV001837211] Chr11:78476711..78486359 [GRCh38]
Chr11:78187757..78197405 [GRCh37]
Chr11:11q14.1
likely pathogenic
NM_024678.6(NARS2):c.689+6A>G single nucleotide variant not provided [RCV002045549] Chr11:78528836 [GRCh38]
Chr11:78239882 [GRCh37]
Chr11:11q14.1
uncertain significance
NM_024678.6(NARS2):c.419G>A (p.Arg140Gln) single nucleotide variant not provided [RCV001893296] Chr11:78566226 [GRCh38]
Chr11:78277272 [GRCh37]
Chr11:11q14.1
uncertain significance
NM_024678.6(NARS2):c.3G>A (p.Met1Ile) single nucleotide variant not provided [RCV001983194] Chr11:78574486 [GRCh38]
Chr11:78285531 [GRCh37]
Chr11:11q14.1
uncertain significance
GRCh37/hg19 11q14.1(chr11:78189174-78189989)x1 copy number loss Combined oxidative phosphorylation defect type 24 [RCV001825329] Chr11:78189174..78189989 [GRCh37]
Chr11:11q14.1
not provided
GRCh37/hg19 11q14.1-22.1(chr11:77855209-98002445) copy number loss not specified [RCV002052940] Chr11:77855209..98002445 [GRCh37]
Chr11:11q14.1-22.1
pathogenic
NM_024678.6(NARS2):c.904A>G (p.Ile302Val) single nucleotide variant not provided [RCV001943944] Chr11:78478602 [GRCh38]
Chr11:78189648 [GRCh37]
Chr11:11q14.1
uncertain significance
NM_024678.6(NARS2):c.128G>T (p.Arg43Leu) single nucleotide variant not provided [RCV001959723] Chr11:78574361 [GRCh38]
Chr11:78285406 [GRCh37]
Chr11:11q14.1
uncertain significance
NM_024678.6(NARS2):c.1307G>A (p.Arg436Gln) single nucleotide variant not provided [RCV002051286] Chr11:78436797 [GRCh38]
Chr11:78147843 [GRCh37]
Chr11:11q14.1
uncertain significance
NC_000011.9:g.(?_78189464)_(78189749_?)del deletion not provided [RCV001963255] Chr11:78189464..78189749 [GRCh37]
Chr11:11q14.1
pathogenic
NM_024678.6(NARS2):c.247A>G (p.Ser83Gly) single nucleotide variant not provided [RCV001991058] Chr11:78571339 [GRCh38]
Chr11:78282384 [GRCh37]
Chr11:11q14.1
uncertain significance
NM_024678.6(NARS2):c.1252_1253insTAAG (p.Arg418fs) insertion not provided [RCV001884577] Chr11:78443670..78443671 [GRCh38]
Chr11:78154716..78154717 [GRCh37]
Chr11:11q14.1
uncertain significance
NM_024678.6(NARS2):c.123G>T (p.Gly41=) single nucleotide variant not provided [RCV002013855] Chr11:78574366 [GRCh38]
Chr11:78285411 [GRCh37]
Chr11:11q14.1
uncertain significance
NM_024678.6(NARS2):c.419G>C (p.Arg140Pro) single nucleotide variant not provided [RCV001884355] Chr11:78566226 [GRCh38]
Chr11:78277272 [GRCh37]
Chr11:11q14.1
uncertain significance
NM_024678.6(NARS2):c.10G>A (p.Val4Ile) single nucleotide variant not provided [RCV001877764] Chr11:78574479 [GRCh38]
Chr11:78285524 [GRCh37]
Chr11:11q14.1
uncertain significance
NM_024678.6(NARS2):c.690-4G>A single nucleotide variant not provided [RCV001937942] Chr11:78493199 [GRCh38]
Chr11:78204245 [GRCh37]
Chr11:11q14.1
uncertain significance
NM_024678.6(NARS2):c.1026+11G>A single nucleotide variant not provided [RCV002125974] Chr11:78469236 [GRCh38]
Chr11:78180282 [GRCh37]
Chr11:11q14.1
likely benign
NM_024678.6(NARS2):c.1290-15A>G single nucleotide variant not provided [RCV002126283] Chr11:78436829 [GRCh38]
Chr11:78147875 [GRCh37]
Chr11:11q14.1
likely benign
NM_024678.6(NARS2):c.1290-17C>G single nucleotide variant not provided [RCV002131914] Chr11:78436831 [GRCh38]
Chr11:78147877 [GRCh37]
Chr11:11q14.1
likely benign
NM_024678.6(NARS2):c.142-11C>A single nucleotide variant not provided [RCV002151705] Chr11:78571455 [GRCh38]
Chr11:78282500 [GRCh37]
Chr11:11q14.1
likely benign
NM_024678.6(NARS2):c.142-4T>C single nucleotide variant not provided [RCV002093228] Chr11:78571448 [GRCh38]
Chr11:78282493 [GRCh37]
Chr11:11q14.1
likely benign
NM_024678.6(NARS2):c.922-14G>A single nucleotide variant not provided [RCV002166074] Chr11:78478489 [GRCh38]
Chr11:78189535 [GRCh37]
Chr11:11q14.1
likely benign
NM_024678.6(NARS2):c.198T>C (p.Asp66=) single nucleotide variant not provided [RCV002194672] Chr11:78571388 [GRCh38]
Chr11:78282433 [GRCh37]
Chr11:11q14.1
likely benign
NM_024678.6(NARS2):c.1287A>G (p.Gln429=) single nucleotide variant not provided [RCV002193435] Chr11:78441093 [GRCh38]
Chr11:78152139 [GRCh37]
Chr11:11q14.1
likely benign
NM_024678.6(NARS2):c.486G>C (p.Ala162=) single nucleotide variant not provided [RCV002194822] Chr11:78566159 [GRCh38]
Chr11:78277205 [GRCh37]
Chr11:11q14.1
likely benign
NM_024678.6(NARS2):c.921+17A>C single nucleotide variant not provided [RCV002092325] Chr11:78478568 [GRCh38]
Chr11:78189614 [GRCh37]
Chr11:11q14.1
likely benign
NM_024678.6(NARS2):c.1289+16C>G single nucleotide variant not provided [RCV002121493] Chr11:78441075 [GRCh38]
Chr11:78152121 [GRCh37]
Chr11:11q14.1
likely benign
NM_024678.6(NARS2):c.1080C>A (p.Gly360=) single nucleotide variant not provided [RCV002161046] Chr11:78465960 [GRCh38]
Chr11:78177006 [GRCh37]
Chr11:11q14.1
likely benign
NM_024678.6(NARS2):c.1290G>C (p.Trp430Cys) single nucleotide variant Combined oxidative phosphorylation defect type 24 [RCV002254492] Chr11:78436814 [GRCh38]
Chr11:78147860 [GRCh37]
Chr11:11q14.1
uncertain significance
NM_024678.6(NARS2):c.728G>A (p.Arg243Gln) single nucleotide variant not provided [RCV002274761] Chr11:78493157 [GRCh38]
Chr11:78204203 [GRCh37]
Chr11:11q14.1
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:26274 AgrOrtholog
COSMIC NARS2 COSMIC
Ensembl Genes ENSG00000137513 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000281038 ENTREZGENE
  ENSP00000281038.5 UniProtKB/Swiss-Prot
  ENSP00000432240.1 UniProtKB/TrEMBL
  ENSP00000432635.1 UniProtKB/Swiss-Prot
  ENSP00000435298.1 UniProtKB/TrEMBL
  ENSP00000436114.1 UniProtKB/TrEMBL
  ENSP00000511817 ENTREZGENE
  ENSP00000511819 ENTREZGENE
  ENSP00000511829 ENTREZGENE
  ENSP00000511832 ENTREZGENE
Ensembl Transcript ENST00000281038 ENTREZGENE
  ENST00000281038.10 UniProtKB/Swiss-Prot
  ENST00000525345.5 UniProtKB/TrEMBL
  ENST00000528850.5 UniProtKB/Swiss-Prot
  ENST00000529771.1 UniProtKB/TrEMBL
  ENST00000529880.1 UniProtKB/TrEMBL
  ENST00000695342 ENTREZGENE
  ENST00000695344 ENTREZGENE
  ENST00000695354 ENTREZGENE
  ENST00000695357 ENTREZGENE
Gene3D-CATH 2.40.50.140 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.930.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000137513 GTEx
HGNC ID HGNC:26274 ENTREZGENE
Human Proteome Map NARS2 Human Proteome Map
InterPro aa-tRNA-synt_II UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  aa-tRNA-synth_II UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  aa-tRNA-synth_II/BPL/LPL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Asn-tRNA-ligase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Asp/Asn-tRNA-synth_IIb UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NA-bd_OB-fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NA-bd_OB_tRNA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:79731 UniProtKB/Swiss-Prot
NCBI Gene 79731 ENTREZGENE
OMIM 612803 OMIM
  616239 OMIM
  618434 OMIM
Pfam tRNA-synt_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  tRNA_anti-codon UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA143485554 PharmGKB
PRINTS TRNASYNTHASP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE AA_TRNA_LIGASE_II UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF50249 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF55681 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
TIGRFAMs asnS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B3KPX5 ENTREZGENE, UniProtKB/TrEMBL
  E9PRK2_HUMAN UniProtKB/TrEMBL
  G3V178 ENTREZGENE
  H0YE96_HUMAN UniProtKB/TrEMBL
  H0YEL9_HUMAN UniProtKB/TrEMBL
  Q96I59 ENTREZGENE
  Q9H5H1 ENTREZGENE, UniProtKB/TrEMBL
  SYNM_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary G3V178 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2017-09-26 NARS2  asparaginyl-tRNA synthetase 2, mitochondrial    asparaginyl-tRNA synthetase 2, mitochondrial (putative)  Symbol and/or name change 5135510 APPROVED