Example cases for search by HGVS and SNP


This demo page shows examples of searching within the Graphical Sequence Viewer (SV) using HGVS and SNP identifiers. The search is local, that is, it is applied only to features on the displayed sequence. The search result is indicated by a marker. To see additional details of the marked position, right-click on the marker and select "Marker Details".

See additional examples of markers on the Marker Demo page.

The search term can be incorporated into the URL of the page so the search results are automatically displayed.
See this page for examples of URLs including a search term.

  1. NC_000007: Homo sapiens chromosome 7, GRCh38 Primary Assembly.
    Enter any of the following search terms in the Find box: NC_000007:g.65954301; NM_173517:r.805; NM_173517:c.*23; rs869312976.

  2. NG_005895.1: Homo sapiens TSC complex subunit 2 (TSC2), RefSeqGene (LRG_487) on chromosome 16.
    Enter any of the following search terms in the Find box: NM_001077183:r.1755; NM_001077183:c.1716+105; NP_000539.2:p.549; rs2302172. Note that a search for NM_001009944.2:c.*1 fails because the feature represented by the expression is incomplete and the location is not found. A search with the terms NM_002528.7:c.1 or NM_002528.7:r.1 is successful because the feature is found in this sequence. However, features with incomplete coordinates, such as NM_002528.7, will not be reported in the marker details table.

  3. BX571818.3: human DNA sequence from clone RP11-38J22 on chromosome 1, complete sequence.
    Enter any of the following search terms in the Find box: BX571818.3:g.62748; CAH73262.1:p.80. CAH73262.1 is found as a search term because this was a protein accession defined by BX571818. The Search term RP11-38J22.4-001:r.70 does not work because you cannot search for RNA sequence coordinates on this accession

  4. Z68280.1: Human DNA sequence from clone LA04NC01-25A3 on chromosome 4, complete sequence.
    Enter the following search term in the Find box: CAI95603.1:p.387

  5. NM_002020.4: Homo sapiens fms related tyrosine kinase 4 (FLT4), transcript variant 2, mRNA.
    Enter any of the following search terms in the Find box: NM_002020.4:r.1513; NM_002020.4:c.1434; NP_002011.2:p.478

  6. M11313.1: Human alpha-2-macroglobulin mRNA, complete cds.
    Enter any of the following search terms in the Find box: M11313.1:c.1985; AAA51551.1:p.662

  7. NP_000928.1: DNA-directed RNA polymerase II subunit RPB1 [Homo sapiens].
    Enter the following search term in the Find box: NP_000928.1:p.773