Variant Annotations in MSeqDR, dbNSFP, VEP and Mutalyzer
Annotation starts 2024-05-02 20:21:58
VEP and Mutalyzer annotations for 2:g.206992622T>C

2:g.206992622T>C converted to hgvs_g for NCBI/ClinVar:
2:g.206992622T>C converted to hgvs_g for mutalyzer: NC_000002.11:g.206992622T>C

Mutalyzer: Variant checkSyntax Converted to HGVS: Mutalyzer 3

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MSeqDR and VEP annotation:
Assembly_name : GRCh37  Chromosome : 2  Start : 206992622  End : 206992622  
ID : 2:g.206992622T>C  Allele_string : T/C  
Most_severe_consequence : missense_variant  
HGVS_g: 2:g.206992622T>C

MSeqDR Community Data and Enhanced Annotations (Save):

Genomic Annotations:

 
Enhanced Annotations:

Disease and phenotypes in MSeqDR, ClinVar and more...

Population allele frequency:

dbNSFP:

*Note: Other alleles at same position maybe shown as extra evidence in "Enhanced Annotations".

Annotation started: 2024-05-02 20:21:58, finished: 2024-05-02 20:22:00