RGD:11348077 Rat Genome Database

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Variant: RGD:11348077 -  Homo sapiens

RGD ID: 11348077
RS ID: rs878854363
ClinVar ID: CV226473
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TPM2  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 9 35,689,202
GRCh38 9 35,689,205
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
LRG_680t1:c.181T>C
NM_213674.1:c.181T>C
LRG_680:g.5853T>C
NG_011620.1:g.5853T>C
More... 		08/31/2021 missense variant likely pathogenic|uncertain significance all ages 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: S to P (nonsynonymous)
Amino Acid Position: 61
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDAIKKKMQMLKLDKENAIDRAEQAEADKKQAEDRCKQLEEEQQALQKKLKGTEDEVEKYPESVKEAQEKLEQAEKKATD
AEADVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERGMKVIENRAMKDEEKMELQEMQLKEAKHIAEDSDR
KYEEVARKLVILEGELERSEERAEVAESRARQLEEELRTMDQALKSLMASEEEYSTKEDKYEEEIKLLEEKLKEAETRAE
FAERSVAKLEKTIDDLEETLASAKEENVEIHQTLDQTLLELNNL*

Gene Symbol:TPM2
Accession:NM_003289
Location:EXON
Amino Acid Prediction: S to P (nonsynonymous)
Amino Acid Position: 61
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDAIKKKMQMLKLDKENAIDRAEQAEADKKQAEDRCKQLEEEQQALQKKLKGTEDEVEKYPESVKEAQEKLEQAEKKATD
AEADVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERGMKVIENRAMKDEEKMELQEMQLKEAKHIAEDSDR
KYEEVARKLVILEGELERSEERAEVAESKCGDLEEELKIVTNNLKSLEAQADKYSTKEDKYEEEIKLLEEKLKEAETRAE
FAERSVAKLEKTIDDLEDEVYAQKMKYKAISEELDNALNDITSL*

Gene Symbol:TPM2
Accession:NM_001301227
Location:EXON
Amino Acid Prediction: S to P (nonsynonymous)
Amino Acid Position: 61
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDAIKKKMQMLKLDKENAIDRAEQAEADKKQAEDRCKQLEEEQQALQKKLKGTEDEVEKYPESVKEAQEKLEQAEKKATD
AEADVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERGMKVIENRAMKDEEKMELQEMQLKEAKHIAEDSDR
KYEEVARKLVILEGELERSEERAEVAESRARQLEEELRTMDQALKSLMASEEEYSTKEDKYEEEIKLLEEKLKEAETRAE
FAERSVAKLEKTIDDLEDEVYAQKMKYKAISEELDNALNDITSL*

Gene Symbol:TPM2
Accession:NM_001301226
Location:EXON
Amino Acid Prediction: S to P (nonsynonymous)
Amino Acid Position: 61
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDAIKKKMQMLKLDKENAIDRAEQAEADKKQAEDRCKQLEEEQQALQKKLKGTEDEVEKYPESVKEAQEKLEQAEKKATD
AEADVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERGMKVIENRAMKDEEKMELQEMQLKEAKHIAEDSDR
KYEEVARKLVILEGELERSEERAEVAESKCGDLEEELKIVTNNLKSLEAQADKYSTKEDKYEEEIKLLEEKLKEAETRAE
FAERSVAKLEKTIDDLEETLASAKEENVEIHQTLDQTLLELNNL*

Gene Symbol:TPM2
Accession:XM_047423827
Location:EXON
Amino Acid Prediction: S to P (nonsynonymous)
Amino Acid Position: 61
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDAIKKKMQMLKLDKENAIDRAEQAEADKKQAEDRCKQLEEEQQALQKKLKGTEDEVEKYPESVKEAQEKLEQAEKKATD
AEADVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERGMKVIENRAMKDEEKMELQEMQLKEAKHIAEDSDR
KYEEVARKLVILEGELERSEERAEVAESRARQLEEELRTMDQALKSLMASEEE*

Gene Symbol:TPM2
Accession:XM_017015088
Location:EXON
Amino Acid Prediction: S to P (nonsynonymous)
Amino Acid Position: 61
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDAIKKKMQMLKLDKENAIDRAEQAEADKKQAEDRCKQLEEEQQALQKKLKGTEDEVEKYPESVKEAQEKLEQAEKKATD
AEADVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERGMKVIENRAMKDEEKMELQEMQLKEAKHIAEDSDR
KYEEVARKLVILEGELERSEERAEVAESRARQLEEELRTMDQALKSLMASEEEVVTPLNLSGQWRLLSAHLPSVSAPQAA
LSQLLGIRKGLGLLSPACCHSHNFALLFSPPPVPCCAISTVWLRCALTPCPPRHTPPAVNVGT*
Variant Samples
Additional References at PubMed
PMID:22832343   PMID:27854218   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000234310 CLINVAR
  RCV001853365 CLINVAR
dbSNP (RS) rs878854363 CLINVAR
MedGen C0220662 CLINVAR
  C1836447 CLINVAR
NCBI Gene TPM2 CLINVAR
OMIM 108120 CLINVAR
  190990 CLINVAR
  609285 CLINVAR