RGD:28884629 Rat Genome Database

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Variant: RGD:28884629 -  Homo sapiens

RGD ID: 28884629
RS ID: rs746177794
ClinVar ID: CV902014
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TPM2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 9 35,685,271
GRCh38 9 35,685,274
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001301226.2:c.558C>T
NM_003289.3:c.558C>T
LRG_680p1:p.Ala186=
LRG_680t1:c.558C>T
More... 		02/20/2022 synonymous variant likely benign|conflicting interpretations of pathogenicity|uncertain significance ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE I; Cap myopathy 2; Nemaline myopathy 4; Nemaline myopathy caused by mutation in the tropomyosin 2 gene
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TPM2
Accession:NM_213674
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 186
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDAIKKKMQMLKLDKENAIDRAEQAEADKKQAEDRCKQLEEEQQALQKKLKGTEDEVEKYSESVKEAQEKLEQAEKKATD
AEADVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERGMKVIENRAMKDEEKMELQEMQLKEAKHIAEDSDR
KYEEVARKLVILEGELERSEERAEVAESRARQLEEELRTMDQALKSLMASEEEYSTKEDKYEEEIKLLEEKLKEAETRAE
FAERSVAKLEKTIDDLEETLASAKEENVEIHQTLDQTLLELNNL*

Gene Symbol:TPM2
Accession:NM_003289
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 186
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDAIKKKMQMLKLDKENAIDRAEQAEADKKQAEDRCKQLEEEQQALQKKLKGTEDEVEKYSESVKEAQEKLEQAEKKATD
AEADVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERGMKVIENRAMKDEEKMELQEMQLKEAKHIAEDSDR
KYEEVARKLVILEGELERSEERAEVAESKCGDLEEELKIVTNNLKSLEAQADKYSTKEDKYEEEIKLLEEKLKEAETRAE
FAERSVAKLEKTIDDLEDEVYAQKMKYKAISEELDNALNDITSL*

Gene Symbol:TPM2
Accession:NM_001301226
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 186
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDAIKKKMQMLKLDKENAIDRAEQAEADKKQAEDRCKQLEEEQQALQKKLKGTEDEVEKYSESVKEAQEKLEQAEKKATD
AEADVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERGMKVIENRAMKDEEKMELQEMQLKEAKHIAEDSDR
KYEEVARKLVILEGELERSEERAEVAESKCGDLEEELKIVTNNLKSLEAQADKYSTKEDKYEEEIKLLEEKLKEAETRAE
FAERSVAKLEKTIDDLEETLASAKEENVEIHQTLDQTLLELNNL*

Gene Symbol:TPM2
Accession:NM_001301227
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 186
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDAIKKKMQMLKLDKENAIDRAEQAEADKKQAEDRCKQLEEEQQALQKKLKGTEDEVEKYSESVKEAQEKLEQAEKKATD
AEADVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERGMKVIENRAMKDEEKMELQEMQLKEAKHIAEDSDR
KYEEVARKLVILEGELERSEERAEVAESRARQLEEELRTMDQALKSLMASEEEYSTKEDKYEEEIKLLEEKLKEAETRAE
FAERSVAKLEKTIDDLEDEVYAQKMKYKAISEELDNALNDITSL*

Gene Symbol:TPM2
Accession:XM_017015088
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 186
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDAIKKKMQMLKLDKENAIDRAEQAEADKKQAEDRCKQLEEEQQALQKKLKGTEDEVEKYSESVKEAQEKLEQAEKKATD
AEADVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERGMKVIENRAMKDEEKMELQEMQLKEAKHIAEDSDR
KYEEVARKLVILEGELERSEERAEVAESRARQLEEELRTMDQALKSLMASEEEVVTPLNLSGQWRLLSAHLPSVSAPQAA
LSQLLGIRKGLGLLSPACCHSHNFALLFSPPPVPCCAISTVWLRCALTPCPPRHTPPAVNVGT*

Gene Symbol:TPM2
Accession:XM_047423827
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 186
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDAIKKKMQMLKLDKENAIDRAEQAEADKKQAEDRCKQLEEEQQALQKKLKGTEDEVEKYSESVKEAQEKLEQAEKKATD
AEADVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERGMKVIENRAMKDEEKMELQEMQLKEAKHIAEDSDR
KYEEVARKLVILEGELERSEERAEVAESRARQLEEELRTMDQALKSLMASEEE*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001168541 CLINVAR
  RCV001168542 CLINVAR
dbSNP (RS) rs746177794 CLINVAR
MedGen C0220662 CLINVAR
  C1836447 CLINVAR
NCBI Gene TPM2 CLINVAR
OMIM 108120 CLINVAR
  190990 CLINVAR
  609285 CLINVAR