RGD:8633118 Rat Genome Database

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Variant: RGD:8633118 -  Homo sapiens

RGD ID: 8633118
ClinVar ID: CV88331
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CA2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 8 86,385,959
GRCh38 8 85,473,730
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000067.2:c.270G>A
NG_007287.1:g.14714G>A
NC_000008.11:g.85473730G>A
NC_000008.10:g.86385959G>A
More...
synonymous variant|intron variant not provided Malignant melanoma, somatic

Variant Details
Variant Transcripts
Gene Symbol:CA2
Accession:NM_000067
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 90
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSHHWGYGKHNGPEHWHKDFPIAKGERQSPVDIDTHTAKYDPSLKPLSVSYDQATSLRILNNGHAFNVEFDDSQDKAVLK
GGPLDGTYRLIQFHFHWGSLDGQGSEHTVDKKKYAAELHLVHWNTKYGDFGKAVQQPDGLAVLGIFLKVGSAKPGLQKVV
DVLDSIKTKGKSADFTNFDPRGLLPESLDYWTYPGSLTTPPLLECVTWIVLKEPISVSSEQVLKFRKLNFNGEGEPEELM
VDNWRPAQPLKNRQIKASFK*

Gene Symbol:CA2
Accession:NM_001293675
Location:INTRON

Variant Samples