Variant Annotations in MSeqDR, dbNSFP, VEP and Mutalyzer
Annotation starts 2024-05-07 04:22:50
VEP and Mutalyzer annotations for 2:g.207013835del

2:g.207013835del converted to hgvs_g for NCBI/ClinVar:
2:g.207013835del converted to hgvs_g for mutalyzer: NC_000002.11:g.207013835del

Mutalyzer: Variant checkSyntax Converted to HGVS: Mutalyzer 3

;

MSeqDR and VEP annotation:
Assembly_name : GRCh37  Chromosome : 2  Start : 207013835  End : 207013835  
ID : 2:g.207013835del  Allele_string : A/-  
Most_severe_consequence : splice_polypyrimidine_tract_variant  
HGVS_g: 2:g.207013835_207013835delA

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: 2024-05-07 04:22:50, finished: 2024-05-07 04:22:52