RGD:126752815 Rat Genome Database

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Variant: RGD:126752815 -  Homo sapiens

RGD ID: 126752815
RS ID: rs1687186092
ClinVar ID: CV1024534
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CALM2  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 2 47,389,507
GRCh38 2 47,162,368
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001743.6:c.203A>C
NM_001305624.1:c.347A>C
NM_001305626.1:c.95A>C
NG_042065.1:g.19569A>C
More... 		05/20/2020 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CALM2
Accession:NM_001305626
Location:EXON
Amino Acid Prediction: E to A (nonsynonymous)
Amino Acid Position: 32
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRSLGQNPTEAELQDMINEVDADGNGTIDFPAFLTMMARKMKDTDSEEEIREAFRVFDKDGNGYISAAELRHVMTNLGEK
LTDEEVDEMIREADIDGDGQVNYEEFVQMMTAK*

Gene Symbol:CALM2
Accession:NM_001305624
Location:EXON
Amino Acid Prediction: E to A (nonsynonymous)
Amino Acid Position: 116
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRRWGRRRRISPSGESELSGCVVASRKPVALAAWLALYIASHFAQQPCKADQLTEEQIAEFKEAFSLFDKDGDGTITTKE
LGTVMRSLGQNPTEAELQDMINEVDADGNGTIDFPAFLTMMARKMKDTDSEEEIREAFRVFDKDGNGYISAAELRHVMTN
LGEKLTDEEVDEMIREADIDGDGQVNYEEFVQMMTAK*

Gene Symbol:CALM2
Accession:NM_001305625
Location:EXON
Amino Acid Prediction: E to A (nonsynonymous)
Amino Acid Position: 32
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRSLGQNPTEAELQDMINEVDADGNGTIDFPAFLTMMARKMKDTDSEEEIREAFRVFDKDGNGYISAAELRHVMTNLGEK
LTDEEVDEMIREADIDGDGQVNYEEFVQMMTAK*

Gene Symbol:CALM2
Accession:NM_001743
Location:EXON
Amino Acid Prediction: E to A (nonsynonymous)
Amino Acid Position: 68
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MADQLTEEQIAEFKEAFSLFDKDGDGTITTKELGTVMRSLGQNPTEAELQDMINEVDADGNGTIDFPAFLTMMARKMKDT
DSEEEIREAFRVFDKDGNGYISAAELRHVMTNLGEKLTDEEVDEMIREADIDGDGQVNYEEFVQMMTAK*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002242197 CLINVAR
dbSNP (RS) rs1687186092 CLINVAR
MedGen C4551647 CLINVAR
NCBI Gene CALM2 CLINVAR
OMIM 114182 CLINVAR
  192500 CLINVAR