Variant Annotations in MSeqDR, dbNSFP, VEP and Mutalyzer
Annotation starts 2024-04-27 17:17:53
VEP and Mutalyzer annotations for 2:g.207012533C>T

2:g.207012533C>T converted to hgvs_g for NCBI/ClinVar:
2:g.207012533C>T converted to hgvs_g for mutalyzer: NC_000002.11:g.207012533C>T

Mutalyzer: Variant checkSyntax Converted to HGVS: Mutalyzer 3

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MSeqDR and VEP annotation:
Assembly_name : GRCh37  Chromosome : 2  Start : 207012533  End : 207012533  
ID : 2:g.207012533C>T  Allele_string : C/T  
Most_severe_consequence : missense_variant  
HGVS_g: 2:g.207012533C>T

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: 2024-04-27 17:17:53, finished: 2024-04-27 17:17:55