RGD:13508750 Rat Genome Database

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Variant: RGD:13508750 -  Homo sapiens

RGD ID: 13508750
RS ID: rs1553431702
ClinVar ID: CV481344
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CALM2  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 2 47,388,869
GRCh38 2 47,161,730
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000002.12:g.47161730G>C
NP_001292554.1:p.Asn102Lys
NM_001743.6:c.414C>G
NC_000002.11:g.47388869G>C
More...
10/30/2017 missense variant pathogenic
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CALM2
Accession:NM_001743
Location:EXON
Amino Acid Prediction: N to K (nonsynonymous)
Amino Acid Position: 138
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MADQLTEEQIAEFKEAFSLFDKDGDGTITTKELGTVMRSLGQNPTEAELQDMINEVDADGNGTIDFPEFLTMMARKMKDT
DSEEEIREAFRVFDKDGNGYISAAELRHVMTNLGEKLTDEEVDEMIREADIDGDGQVKYEEFVQMMTAK*

Gene Symbol:CALM2
Accession:NM_001305625
Location:EXON
Amino Acid Prediction: N to K (nonsynonymous)
Amino Acid Position: 102
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRSLGQNPTEAELQDMINEVDADGNGTIDFPEFLTMMARKMKDTDSEEEIREAFRVFDKDGNGYISAAELRHVMTNLGEK
LTDEEVDEMIREADIDGDGQVKYEEFVQMMTAK*

Gene Symbol:CALM2
Accession:NM_001305624
Location:EXON
Amino Acid Prediction: N to K (nonsynonymous)
Amino Acid Position: 186
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRRWGRRRRISPSGESELSGCVVASRKPVALAAWLALYIASHFAQQPCKADQLTEEQIAEFKEAFSLFDKDGDGTITTKE
LGTVMRSLGQNPTEAELQDMINEVDADGNGTIDFPEFLTMMARKMKDTDSEEEIREAFRVFDKDGNGYISAAELRHVMTN
LGEKLTDEEVDEMIREADIDGDGQVKYEEFVQMMTAK*

Gene Symbol:CALM2
Accession:NM_001305626
Location:EXON
Amino Acid Prediction: N to K (nonsynonymous)
Amino Acid Position: 102
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRSLGQNPTEAELQDMINEVDADGNGTIDFPEFLTMMARKMKDTDSEEEIREAFRVFDKDGNGYISAAELRHVMTNLGEK
LTDEEVDEMIREADIDGDGQVKYEEFVQMMTAK*

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000578313 CLINVAR
dbSNP (RS) rs1553431702 CLINVAR
MedGen C4015695 CLINVAR
NCBI Gene CALM2 CLINVAR
OMIM 114182 CLINVAR
  616249 CLINVAR