rs2104822473 Rat Genome Database

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Variant: rs2104822473 -  Homo sapiens

RGD ID: 150555379
RS ID: rs2104822473
ClinVar ID: CV1297837
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ACTG2  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 2 74,141,822
GRCh38 2 73,914,695
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001199893.2:c.500T>C
NM_001615.4:c.629T>C
NG_034140.1:g.26730T>C
NC_000002.12:g.73914695T>C
More... 		03/23/2019 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:ACTG2
Accession:NM_001615
Location:EXON
Amino Acid Prediction: V to A (nonsynonymous)
Amino Acid Position: 210
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MCEEETTALVCDNGSGLCKAGFAGDDAPRAVFPSIVGRPRHQGVMVGMGQKDSYVGDEAQSKRGILTLKYPIEHGIITNW
DDMEKIWHHSFYNELRVAPEEHPTLLTEAPLNPKANREKMTQIMFETFNVPAMYVAIQAVLSLYASGRTTGIVLDSGDGV
THNVPIYEGYALPHAIMRLDLAGRDLTDYLMKILTERGYSFVTTAEREIARDIKEKLCYVALDFENEMATAASSSSLEKS
YELPDGQVITIGNERFRCPETLFQPSFIGMESAGIHETTYNSIMKCDIDIRKDLYANNVLSGGTTMYPGIADRMQKEITA
LAPSTMKIKIIAPPERKYSVWIGGSILASLSTFQQMWISKPEYDEAGPSIVHRKCF*

Gene Symbol:ACTG2
Accession:NM_001199893
Location:EXON
Amino Acid Prediction: V to A (nonsynonymous)
Amino Acid Position: 167
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MCEEETTALVCDNGSGLCKAGFAGDDAPRAVFPSIVGRPRHQIWHHSFYNELRVAPEEHPTLLTEAPLNPKANREKMTQI
MFETFNVPAMYVAIQAVLSLYASGRTTGIVLDSGDGVTHNVPIYEGYALPHAIMRLDLAGRDLTDYLMKILTERGYSFVT
TAEREIARDIKEKLCYVALDFENEMATAASSSSLEKSYELPDGQVITIGNERFRCPETLFQPSFIGMESAGIHETTYNSI
MKCDIDIRKDLYANNVLSGGTTMYPGIADRMQKEITALAPSTMKIKIIAPPERKYSVWIGGSILASLSTFQQMWISKPEY
DEAGPSIVHRKCF*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001772745 CLINVAR
dbSNP (RS) rs2104822473 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene ACTG2 CLINVAR
OMIM 102545 CLINVAR