RGD:13535737 Rat Genome Database

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Variant: RGD:13535737 -  Homo sapiens

RGD ID: 13535737
RS ID: rs765277820
ClinVar ID: CV499962
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CALM2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 47,403,593
GRCh38 2 47,176,454
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001305624.1:c.88G>A
NG_042065.1:g.5483G>A
NC_000002.12:g.47176454C>T
NC_000002.11:g.47403593C>T
More... 		05/15/2017 5 prime utr variant|intron variant likely benign AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:CALM2
Accession:NM_001743
Location:5UTRS;EXON

Gene Symbol:CALM2
Accession:NM_001305625
Location:5UTRS;INTRON

Gene Symbol:CALM2
Accession:NM_001305624
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 30
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRRWGRRRRISPSGESELSGCVVASRKPVTLAAWLALYIASHFAQQPCKADQLTEEQIAEFKEAFSLFDKDGDGTITTKE
LGTVMRSLGQNPTEAELQDMINEVDADGNGTIDFPEFLTMMARKMKDTDSEEEIREAFRVFDKDGNGYISAAELRHVMTN
LGEKLTDEEVDEMIREADIDGDGQVNYEEFVQMMTAK*

Gene Symbol:CALM2
Accession:NM_001305626
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000607991 CLINVAR
dbSNP (RS) rs765277820 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene CALM2 CLINVAR
OMIM 114182 CLINVAR