SACGF / SACGF/variantgrid

Search result confusing when genomic reference base differs to transcript reference base

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#1,352 2 comments 0 reactions 1 assignee Claimed by @davmlaw View on GitHub
Reference base
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Description

Example - Search on NM_005027.3(PIK3R2):c.937T>G

Transcript on positive strand
Transcript reference base is a C
Genomic reference base is a T

Searching for the above returns the following which may result in confusion for the user (says it swapping a T for a T).
Screenshot 2025-08-26 at 11.15.06 AM.png

Searching on NM_005027.3(PIK3R2):c.937C>G takes you to the allele page with no errors, as it matches the chgvs and ref in the transcript.

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