RGD:13489912 Rat Genome Database

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Variant: RGD:13489912 -  Homo sapiens

RGD ID: 13489912
RS ID: rs771351240
ClinVar ID: CV442717
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TGFB2  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 218,520,197
GRCh38 1 218,346,855
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_027721.2:g.6522A>G
NC_000001.11:g.218346855A>G
NC_000001.10:g.218520197A>G
NP_001129071.1:p.Ser52Gly
More... 		06/13/2017 missense variant uncertain significance ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TGFB2
Accession:NM_003238
Location:EXON
Amino Acid Prediction: S to G (nonsynonymous)
Amino Acid Position: 52
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHYCVLSAFLILHLVTVALSLSTCSTLDMDQFMRKRIEAIRGQILSKLKLTGPPEDYPEPEEVPPEVISIYNSTRDLLQE
KASRRAAACERERSDEEYYAKEVYKIDMPPFFPSENAIPPTFYRPYFRIVRFDVSAMEKNASNLVKAEFRVFRLQNPKAR
VPEQRIELYQILKSKDLTSPTQRYIDSKVVKTRAEGEWLSFDVTDAVHEWLHHKDRNLGFKISLHCPCCTFVPSNNYIIP
NKSEELEARFAGIDGTSTYTSGDQKTIKSTRKKNSGKTPHLLLMLLPSYRLESQQTNRRKKRALDAAYCFRNVQDNCCLR
PLYIDFKRDLGWKWIHEPKGYNANFCAGACPYLWSSDTQHSRVLSLYNTINPEASASPCCVSQDLEPLTILYYIGKTPKI
EQLSNMIVKSCKCS*

Gene Symbol:TGFB2
Accession:NM_001135599
Location:EXON
Amino Acid Prediction: S to G (nonsynonymous)
Amino Acid Position: 52
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHYCVLSAFLILHLVTVALSLSTCSTLDMDQFMRKRIEAIRGQILSKLKLTGPPEDYPEPEEVPPEVISIYNSTRDLLQE
KASRRAAACERERSDEEYYAKEVYKIDMPPFFPSETVCPVVTTPSGSVGSLCSRQSQVLCGYLDAIPPTFYRPYFRIVRF
DVSAMEKNASNLVKAEFRVFRLQNPKARVPEQRIELYQILKSKDLTSPTQRYIDSKVVKTRAEGEWLSFDVTDAVHEWLH
HKDRNLGFKISLHCPCCTFVPSNNYIIPNKSEELEARFAGIDGTSTYTSGDQKTIKSTRKKNSGKTPHLLLMLLPSYRLE
SQQTNRRKKRALDAAYCFRNVQDNCCLRPLYIDFKRDLGWKWIHEPKGYNANFCAGACPYLWSSDTQHSRVLSLYNTINP
EASASPCCVSQDLEPLTILYYIGKTPKIEQLSNMIVKSCKCS*

Gene Symbol:TGFB2
Accession:NR_138148
Location:EXON;NON-CODING

Gene Symbol:TGFB2
Accession:NR_138149
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000524041 CLINVAR
  RCV002497016 CLINVAR
dbSNP (RS) rs771351240 CLINVAR
MedGen C3553762 CLINVAR
  CN517202 CLINVAR
NCBI Gene TGFB2 CLINVAR
OMIM 190220 CLINVAR
  614816 CLINVAR