RGD:13527319 Rat Genome Database

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Variant: RGD:13527319 -  Homo sapiens

RGD ID: 13527319
RS ID: rs772067065
ClinVar ID: CV510240
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ACTA2  ACTA2-AS1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 10 90,695,107
GRCh38 10 88,935,350
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000010.11:g.88935350T>C
NM_001613.2:c.1007A>G
NP_001135417.1:p.Glu336Gly
LRG_781:g.61041A>G
More... 		06/05/2017 missense variant uncertain significance Thoracic aortic aneurysms and dissections
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ACTA2
Accession:NM_001613
Location:EXON
Amino Acid Prediction: E to A (nonsynonymous)
Amino Acid Position: 336
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MCEEEDSTALVCDNGSGLCKAGFAGDDAPRAVFPSIVGRPRHQGVMVGMGQKDSYVGDEAQSKRGILTLKYPIEHGIITN
WDDMEKIWHHSFYNELRVAPEEHPTLLTEAPLNPKANREKMTQIMFETFNVPAMYVAIQAVLSLYASGRTTGIVLDSGDG
VTHNVPIYEGYALPHAIMRLDLAGRDLTDYLMKILTERGYSFVTTAEREIVRDIKEKLCYVALDFENEMATAASSSSLEK
SYELPDGQVITIGNERFRCPETLFQPSFIGMESAGIHETTYNSIMKCDIDIRKDLYANNVLSGGTTMYPGIADRMQKEIT
ALAPSTMKIKIIAPPARKYSVWIGGSILASLSTFQQMWISKQEYDEAGPSIVHRKCF*

Gene Symbol:ACTA2
Accession:NM_001406466
Location:EXON
Amino Acid Prediction: E to A (nonsynonymous)
Amino Acid Position: 299
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MCEEEDSTALVCDNGSGLCKAGFAGDDAPRAVFPSIVGRPRHQGVMVGMGQKDSYVGDEAQSKRGILTLKYPIEHGIITN
WDDMEKIMFETFNVPAMYVAIQAVLSLYASGRTTGIVLDSGDGVTHNVPIYEGYALPHAIMRLDLAGRDLTDYLMKILTE
RGYSFVTTAEREIVRDIKEKLCYVALDFENEMATAASSSSLEKSYELPDGQVITIGNERFRCPETLFQPSFIGMESAGIH
ETTYNSIMKCDIDIRKDLYANNVLSGGTTMYPGIADRMQKEITALAPSTMKIKIIAPPARKYSVWIGGSILASLSTFQQM
WISKQEYDEAGPSIVHRKCF*

Gene Symbol:ACTA2
Accession:NM_001406468
Location:EXON
Amino Acid Prediction: E to A (nonsynonymous)
Amino Acid Position: 293
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MCEEEDSTALVCDNGSGLCKAGFAGDDAPRAVFPSIVGRPRHQIWHHSFYNELRVAPEEHPTLLTEAPLNPKANREKMTQ
IMFETFNVPAMYVAIQAVLSLYASGRTTGIVLDSGDGVTHNVPIYEGYALPHAIMRLDLAGRDLTDYLMKILTERGYSFV
TTAEREIVRDIKEKLCYVALDFENEMATAASSSSLEKSYELPDGQVITIGNERFRCPETLFQPSFIGMESAGIHETTYNS
IMKCDIDIRKDLYANNVLSGGTTMYPGIADRMQKEITALAPSTMKIKIIAPPARKYSVWIGGSILASLSTFQQMWISKQE
YDEAGPSIVHRKCF*

Gene Symbol:ACTA2
Accession:NM_001406464
Location:EXON
Amino Acid Prediction: E to A (nonsynonymous)
Amino Acid Position: 336
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MCEEEDSTALVCDNGSGLCKAGFAGDDAPRAVFPSIVGRPRHQGVMVGMGQKDSYVGDEAQSKRGILTLKYPIEHGIITN
WDDMEKIWHHSFYNELRVAPEEHPTLLTEAPLNPKANREKMTQIMFETFNVPAMYVAIQAVLSLYASGRTTGIVLDSGDG
VTHNVPIYEGYALPHAIMRLDLAGRDLTDYLMKILTERGYSFVTTAEREIVRDIKEKLCYVALDFENEMATAASSSSLEK
SYELPDGQVITIGNERFRCPETLFQPSFIGMESAGIHETTYNSIMKCDIDIRKDLYANNVLSGGTTMYPGIADRMQKEIT
ALAPSTMKIKIIAPPARKYSVWIGGSILASLSTFQQMWISKQEYDEAGPSIVHRKCF*

Gene Symbol:ACTA2
Accession:NM_001320855
Location:EXON
Amino Acid Prediction: E to A (nonsynonymous)
Amino Acid Position: 336
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MCEEEDSTALVCDNGSGLCKAGFAGDDAPRAVFPSIVGRPRHQGVMVGMGQKDSYVGDEAQSKRGILTLKYPIEHGIITN
WDDMEKIWHHSFYNELRVAPEEHPTLLTEAPLNPKANREKMTQIMFETFNVPAMYVAIQAVLSLYASGRTTGIVLDSGDG
VTHNVPIYEGYALPHAIMRLDLAGRDLTDYLMKILTERGYSFVTTAEREIVRDIKEKLCYVALDFENEMATAASSSSLEK
SYELPDGQVITIGNERFRCPETLFQPSFIGMESAGIHETTYNSIMKCDIDIRKDLYANNVLSGGTTMYPGIADRMQKEIT
ALAPSTMKIKIIAPPARKYSVWIGGSILASLSTFQQMWISKQEYDEAGPSIVHRKCF*

Gene Symbol:ACTA2
Accession:NM_001141945
Location:EXON
Amino Acid Prediction: E to A (nonsynonymous)
Amino Acid Position: 336
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MCEEEDSTALVCDNGSGLCKAGFAGDDAPRAVFPSIVGRPRHQGVMVGMGQKDSYVGDEAQSKRGILTLKYPIEHGIITN
WDDMEKIWHHSFYNELRVAPEEHPTLLTEAPLNPKANREKMTQIMFETFNVPAMYVAIQAVLSLYASGRTTGIVLDSGDG
VTHNVPIYEGYALPHAIMRLDLAGRDLTDYLMKILTERGYSFVTTAEREIVRDIKEKLCYVALDFENEMATAASSSSLEK
SYELPDGQVITIGNERFRCPETLFQPSFIGMESAGIHETTYNSIMKCDIDIRKDLYANNVLSGGTTMYPGIADRMQKEIT
ALAPSTMKIKIIAPPARKYSVWIGGSILASLSTFQQMWISKQEYDEAGPSIVHRKCF*

Gene Symbol:ACTA2
Accession:NM_001406467
Location:EXON
Amino Acid Prediction: E to A (nonsynonymous)
Amino Acid Position: 293
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MCEEEDSTALVCDNGSGLCKAGFAGDDAPRAVFPSIVGRPRHQIWHHSFYNELRVAPEEHPTLLTEAPLNPKANREKMTQ
IMFETFNVPAMYVAIQAVLSLYASGRTTGIVLDSGDGVTHNVPIYEGYALPHAIMRLDLAGRDLTDYLMKILTERGYSFV
TTAEREIVRDIKEKLCYVALDFENEMATAASSSSLEKSYELPDGQVITIGNERFRCPETLFQPSFIGMESAGIHETTYNS
IMKCDIDIRKDLYANNVLSGGTTMYPGIADRMQKEITALAPSTMKIKIIAPPARKYSVWIGGSILASLSTFQQMWISKQE
YDEAGPSIVHRKCF*

Gene Symbol:ACTA2
Accession:NM_001406469
Location:EXON
Amino Acid Prediction: E to A (nonsynonymous)
Amino Acid Position: 293
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MCEEEDSTALVCDNGSGLCKAGFAGDDAPRAVFPSIVGRPRHQIWHHSFYNELRVAPEEHPTLLTEAPLNPKANREKMTQ
IMFETFNVPAMYVAIQAVLSLYASGRTTGIVLDSGDGVTHNVPIYEGYALPHAIMRLDLAGRDLTDYLMKILTERGYSFV
TTAEREIVRDIKEKLCYVALDFENEMATAASSSSLEKSYELPDGQVITIGNERFRCPETLFQPSFIGMESAGIHETTYNS
IMKCDIDIRKDLYANNVLSGGTTMYPGIADRMQKEITALAPSTMKIKIIAPPARKYSVWIGGSILASLSTFQQMWISKQE
YDEAGPSIVHRKCF*

Gene Symbol:ACTA2
Accession:NM_001406462
Location:EXON
Amino Acid Prediction: E to A (nonsynonymous)
Amino Acid Position: 336
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MCEEEDSTALVCDNGSGLCKAGFAGDDAPRAVFPSIVGRPRHQGVMVGMGQKDSYVGDEAQSKRGILTLKYPIEHGIITN
WDDMEKIWHHSFYNELRVAPEEHPTLLTEAPLNPKANREKMTQIMFETFNVPAMYVAIQAVLSLYASGRTTGIVLDSGDG
VTHNVPIYEGYALPHAIMRLDLAGRDLTDYLMKILTERGYSFVTTAEREIVRDIKEKLCYVALDFENEMATAASSSSLEK
SYELPDGQVITIGNERFRCPETLFQPSFIGMESAGIHETTYNSIMKCDIDIRKDLYANNVLSGGTTMYPGIADRMQKEIT
ALAPSTMKIKIIAPPARKYSVWIGGSILASLSTFQQMWISKQEYDEAGPSIVHRKCF*

Gene Symbol:ACTA2
Accession:NM_001406463
Location:EXON
Amino Acid Prediction: E to A (nonsynonymous)
Amino Acid Position: 336
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MCEEEDSTALVCDNGSGLCKAGFAGDDAPRAVFPSIVGRPRHQGVMVGMGQKDSYVGDEAQSKRGILTLKYPIEHGIITN
WDDMEKIWHHSFYNELRVAPEEHPTLLTEAPLNPKANREKMTQIMFETFNVPAMYVAIQAVLSLYASGRTTGIVLDSGDG
VTHNVPIYEGYALPHAIMRLDLAGRDLTDYLMKILTERGYSFVTTAEREIVRDIKEKLCYVALDFENEMATAASSSSLEK
SYELPDGQVITIGNERFRCPETLFQPSFIGMESAGIHETTYNSIMKCDIDIRKDLYANNVLSGGTTMYPGIADRMQKEIT
ALAPSTMKIKIIAPPARKYSVWIGGSILASLSTFQQMWISKQEYDEAGPSIVHRKCF*

Gene Symbol:ACTA2
Accession:NM_001406471
Location:EXON
Amino Acid Prediction: E to A (nonsynonymous)
Amino Acid Position: 272
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MCEEEDSTALVCDNGSGLCKAGFAGDDAPRAVFPSIVGRPRHQGVMVGMGQKDSYVGDEAQSKRGILTLKYPIEHGIITN
WDDMEKIWHHSFYNELRVAPEEHPTLLTEAPLNPKANREKMTQIMFETFNVPAMYVAIQAVLSLYASGRTTGIVLDSGDG
VTHNVPIYEGYALPHAIMRLDLAGRDLTDYLMKILTERGYSFVTTGMESAGIHETTYNSIMKCDIDIRKDLYANNVLSGG
TTMYPGIADRMQKEITALAPSTMKIKIIAPPARKYSVWIGGSILASLSTFQQMWISKQEYDEAGPSIVHRKCF*

Gene Symbol:ACTA2-AS1
Accession:NR_125373
Location:EXON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002314198 CLINVAR
dbSNP (RS) rs772067065 CLINVAR
MedGen C4707243 CLINVAR
NCBI Gene ACTA2 CLINVAR
  ACTA2-AS1 CLINVAR
OMIM 102620 CLINVAR