Variant Annotations in MSeqDR, dbNSFP, VEP and Mutalyzer Annotation starts 2024-05-04 22:15:18 VEP and Mutalyzer annotations for 2:g.207013834_207013835insA
2:g.207013834_207013835insA converted to hgvs_g for NCBI/ClinVar: 2:g.207013834_207013835insA converted to hgvs_g for mutalyzer: NC_000002.11:g.207013834_207013835insA
Mutalyzer: Variant checkSyntax Converted to HGVS:
Mutalyzer 3;
MSeqDR and VEP annotation: Assembly_name : GRCh37 Chromosome : 2 Start : 207013835 End : 207013834 ID : 2:g.207013834_207013835insA Allele_string : -/A Most_severe_consequence : splice_polypyrimidine_tract_variant HGVS_g: 2:g.207013834_207013835insA
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".