Variant Annotations in MSeqDR, dbNSFP, VEP and Mutalyzer Annotation starts 2024-05-04 08:45:53 VEP and Mutalyzer annotations for 2:g.207014658_207014659del
2:g.207014658_207014659del converted to hgvs_g for NCBI/ClinVar: 2:g.207014658_207014659del converted to hgvs_g for mutalyzer: NC_000002.11:g.207014658_207014659del
Mutalyzer: Variant checkSyntax Converted to HGVS:
Mutalyzer 3;
MSeqDR and VEP annotation: Assembly_name : GRCh37 Chromosome : 2 Start : 207014658 End : 207014659 ID : 2:g.207014658_207014659del Allele_string : AA/- Most_severe_consequence : splice_polypyrimidine_tract_variant HGVS_g: 2:g.207014658_207014659delAA
MSeqDR Community Data and Enhanced Annotations
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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".