RGD:8600909 Rat Genome Database

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Variant: RGD:8600909 -  Homo sapiens

RGD ID: 8600909
RS ID: rs267606643
ClinVar ID: CV33295
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AK2  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 33,480,127
GRCh38 1 33,014,526
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
LRG_133:g.27366A>G
NG_016269.1:g.27366A>G
NC_000001.11:g.33014526T>C
NC_000001.10:g.33480127T>C
More... 		11/03/2022 missense|missense variant|non-coding transcript variant pathogenic neonatal/infancy <1 / 1 000 000 ALEUKOCYTOSIS; Congenital aleukia; DeVaal disease; HEMATOPOIETIC HYPOPLASIA, GENERALIZED; RETICULAR DYSGENESIA; Severe combined immunodeficiency with leukopenia
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:AK2
Accession:NM_001199199
Location:EXON
Amino Acid Prediction: D to G (nonsynonymous)
Amino Acid Position: 157
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPSVPAAEPEYPKGIRAVLLGPPGAGKGTQAPRLAENFCVCHLATGDMLRAMVASGSELGKKLKATMDAGKLVSDEMVV
ELIEKNLETPLCKNGFLLDGFPRTVRQAEMLDDLMEKRKEKLDSVIEFSIPDSLLIHPKSGRSYHEEFNPPKEPMKGDIT
GEPLIRRSDDNEKALKIRLQAYHTQTTPLIEYYRKRGIHSAIDASQTPDVVFASILAAFSKATS*

Gene Symbol:AK2
Accession:NM_001319143
Location:EXON
Amino Acid Prediction: R to R (synonymous)
Amino Acid Position: 133
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPSVPAAEPEYPKGIRAVLLGPPGAGKGTQAPRLAENFCVCHLATGDMLRAMVASGSELGKKLKATMDAGKLVSDEMVV
ELIEKNLETPLCKNGFLLDGFPRTVRQAEMADSPQEWPFLPRGVQPSKRAHER*

Gene Symbol:AK2
Accession:NM_001625
Location:EXON
Amino Acid Prediction: D to G (nonsynonymous)
Amino Acid Position: 165
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPSVPAAEPEYPKGIRAVLLGPPGAGKGTQAPRLAENFCVCHLATGDMLRAMVASGSELGKKLKATMDAGKLVSDEMVV
ELIEKNLETPLCKNGFLLDGFPRTVRQAEMLDDLMEKRKEKLDSVIEFSIPDSLLIRRITGRLIHPKSGRSYHEEFNPPK
EPMKGDITGEPLIRRSDDNEKALKIRLQAYHTQTTPLIEYYRKRGIHSAIDASQTPDVVFASILAAFSKATCKDLVMFI*

Gene Symbol:AK2
Accession:NM_001319142
Location:EXON
Amino Acid Prediction: D to G (nonsynonymous)
Amino Acid Position: 123
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPSVPAAEPEYPKGIRAVLLGPPGAGKGTQVSDEMVVELIEKNLETPLCKNGFLLDGFPRTVRQAEMLDDLMEKRKEKL
DSVIEFSIPDSLLIRRITGRLIHPKSGRSYHEEFNPPKEPMKGDITGEPLIRRSDDNEKALKIRLQAYHTQTTPLIEYYR
KRGIHSAIDASQTPDVVFASILAAFSKATS*

Gene Symbol:AK2
Accession:NM_013411
Location:EXON
Amino Acid Prediction: D to G (nonsynonymous)
Amino Acid Position: 165
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPSVPAAEPEYPKGIRAVLLGPPGAGKGTQAPRLAENFCVCHLATGDMLRAMVASGSELGKKLKATMDAGKLVSDEMVV
ELIEKNLETPLCKNGFLLDGFPRTVRQAEMLDDLMEKRKEKLDSVIEFSIPDSLLIRRITGRLIHPKSGRSYHEEFNPPK
EPMKGDITGEPLIRRSDDNEKALKIRLQAYHTQTTPLIEYYRKRGIHSAIDASQTPDVVFASILAAFSKATS*

Gene Symbol:AK2
Accession:NM_001319141
Location:EXON
Amino Acid Prediction: D to G (nonsynonymous)
Amino Acid Position: 165
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPSVPAAEPEYPKGIRAVLLGPPGAGKGTQAPRLAENFCVCHLATGDMLRAMVASGSELGKKLKATMDAGKLVSDEMVV
ELIEKNLETPLCKNGFLLDGFPRTVRQAEMLDDLMEKRKEKLDSVIEFSIPDSLLIRRITGRLIHPKSGRSYHEEFNPPK
EPMKGDITGEPLIRRSDDNEKALKIRLQAYHTQTTPLIEYYRKRGIHSAIDASQTPDVVFASILAAFSKATC*

Gene Symbol:AK2
Accession:NM_001319139
Location:EXON
Amino Acid Prediction: D to G (nonsynonymous)
Amino Acid Position: 117
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLRAMVASGSELGKKLKATMDAGKLVSDEMVVELIEKNLETPLCKNGFLLDGFPRTVRQAEMLDDLMEKRKEKLDSVIEF
SIPDSLLIRRITGRLIHPKSGRSYHEEFNPPKEPMKGDITGEPLIRRSDDNEKALKIRLQAYHTQTTPLIEYYRKRGIHS
AIDASQTPDVVFASILAAFSKATS*

Gene Symbol:AK2
Accession:NM_001319140
Location:EXON
Amino Acid Prediction: D to G (nonsynonymous)
Amino Acid Position: 117
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLRAMVASGSELGKKLKATMDAGKLVSDEMVVELIEKNLETPLCKNGFLLDGFPRTVRQAEMLDDLMEKRKEKLDSVIEF
SIPDSLLIRRITGRLIHPKSGRSYHEEFNPPKEPMKGDITGEPLIRRSDDNEKALKIRLQAYHTQTTPLIEYYRKRGIHS
AIDASQTPDVVFASILAAFSKATCKDLVMFI*

Gene Symbol:AK2
Accession:NR_134976
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:19043416   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000019918 CLINVAR
dbSNP (RS) rs267606643 CLINVAR
MedGen C0272167 CLINVAR
NCBI Gene AK2 CLINVAR
OMIM 103020 CLINVAR
  267500 CLINVAR
OMIM Allele 103020.0007 CLINVAR
SNOMED CT 111584000 CLINVAR