RGD:28890008 Rat Genome Database

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Variant: RGD:28890008 -  Homo sapiens

RGD ID: 28890008
RS ID: rs549727520
ClinVar ID: CV883315
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ALS2  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 2 202,565,355
GRCh38 2 201,700,632
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000002.12:g.201700632G>C
NC_000002.11:g.202565355G>C
LRG_654:g.85541C>G
NM_020919.3:c.*1219C>G
More... 		01/12/2018 3 prime utr variant uncertain significance ALS, JUVENILE; ALS2-Related Spectrum Disorders; Amyotrophic lateral sclerosis type 2
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ALS2
Accession:NM_020919
Location:3UTRS;EXON

Gene Symbol:ALS2
Accession:XM_047445224
Location:3UTRS;EXON

Gene Symbol:
Accession:
Location:3UTRS;EXON

Gene Symbol:ALS2
Accession:NM_001410975
Location:3UTRS;EXON

Gene Symbol:ALS2
Accession:XM_006712654
Location:3UTRS;EXON

Gene Symbol:ALS2
Accession:XM_017004572
Location:3UTRS;EXON

Gene Symbol:ALS2
Accession:XM_006712655
Location:3UTRS;EXON

Gene Symbol:ALS2
Accession:XM_047445241
Location:INTRON

Gene Symbol:ALS2
Accession:NM_001135745
Location:INTRON

Gene Symbol:ALS2
Accession:XM_017004570
Location:INTRON

Gene Symbol:ALS2
Accession:XM_047445238
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001138894 CLINVAR
  RCV001138895 CLINVAR
dbSNP (RS) rs549727520 CLINVAR
MedGen C1859807 CLINVAR
  CN169291 CLINVAR
NCBI Gene ALS2 CLINVAR
OMIM 205100 CLINVAR
  606352 CLINVAR