RGD:152073393 Rat Genome Database

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Variant: RGD:152073393 -  Homo sapiens

RGD ID: 152073393
RS ID: rs200036157
ClinVar ID: CV1633289
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IGF2  INS-IGF2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 2,154,256
GRCh38 11 2,133,026
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1031t1:c.504C>T
LRG_1031t2:c.504C>T
LRG_1031t3:c.504C>T
LRG_1031t4:c.504C>T
More... 		12/08/2021 non-coding transcript variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:IGF2
Accession:NM_001007139
Location:EXON
Amino Acid Prediction: H to Q (nonsynonymous)
Amino Acid Position: 168
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGIPMGKSMLVLLTFLAFASCCIAAYRPSETLCGGELVDTLQFVCGDRGFYFSRPASRVSRRSRGIVEECCFRSCDLALL
ETYCATPAKSERDVSTPPTVLPDNFPRYPVGKFFQYDTWKQSTQRLRRGLPALLRARRGHVLAKELEAFREAKRHRPLIA
LPTQDPAQGGAPPEMASNRK*

Gene Symbol:IGF2
Accession:NM_001127598
Location:EXON
Amino Acid Prediction: H to Q (nonsynonymous)
Amino Acid Position: 224
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVSPDPQIIVVAPETELASMQVQRTEDGVTIIQIFWVGRKGELLRRTPVSSAMQTPMGIPMGKSMLVLLTFLAFASCCIA
AYRPSETLCGGELVDTLQFVCGDRGFYFSRPASRVSRRSRGIVEECCFRSCDLALLETYCATPAKSERDVSTPPTVLPDN
FPRYPVGKFFQYDTWKQSTQRLRRGLPALLRARRGHVLAKELEAFREAKRHRPLIALPTQDPAQGGAPPEMASNRK*

Gene Symbol:IGF2
Accession:NM_000612
Location:EXON
Amino Acid Prediction: H to Q (nonsynonymous)
Amino Acid Position: 168
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGIPMGKSMLVLLTFLAFASCCIAAYRPSETLCGGELVDTLQFVCGDRGFYFSRPASRVSRRSRGIVEECCFRSCDLALL
ETYCATPAKSERDVSTPPTVLPDNFPRYPVGKFFQYDTWKQSTQRLRRGLPALLRARRGHVLAKELEAFREAKRHRPLIA
LPTQDPAQGGAPPEMASNRK*

Gene Symbol:IGF2
Accession:NM_001291862
Location:EXON
Amino Acid Prediction: H to Q (nonsynonymous)
Amino Acid Position: 168
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGIPMGKSMLVLLTFLAFASCCIAAYRPSETLCGGELVDTLQFVCGDRGFYFSRPASRVSRRSRGIVEECCFRSCDLALL
ETYCATPAKSERDVSTPPTVLPDNFPRYPVGKFFQYDTWKQSTQRLRRGLPALLRARRGHVLAKELEAFREAKRHRPLIA
LPTQDPAQGGAPPEMASNRK*

Gene Symbol:IGF2
Accession:NM_001291861
Location:EXON
Amino Acid Prediction: H to Q (nonsynonymous)
Amino Acid Position: 168
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGIPMGKSMLVLLTFLAFASCCIAAYRPSETLCGGELVDTLQFVCGDRGFYFSRPASRVSRRSRGIVEECCFRSCDLALL
ETYCATPAKSERDVSTPPTVLPDNFPRYPVGKFFQYDTWKQSTQRLRRGLPALLRARRGHVLAKELEAFREAKRHRPLIA
LPTQDPAQGGAPPEMASNRK*

Gene Symbol:INS-IGF2
Accession:NR_003512
Location:EXON;NON-CODING

Gene Symbol:INS-IGF2
Accession:NM_001042376
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002129892 CLINVAR
dbSNP (RS) rs200036157 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene IGF2 CLINVAR
  INS-IGF2 CLINVAR
OMIM 147470 CLINVAR