Fig. 2: Candidate variants with isoform-specific annotations. | Human Genome Variation

Fig. 2: Candidate variants with isoform-specific annotations.

From: Pathological variants in genes associated with disorders of sex development and central causes of hypogonadism in a whole-genome reference panel of 8380 Japanese individuals

Fig. 2

NCBI website data for CBX2 (NM_032647): c.C631T:p. Gln211* (a) and GNRHR (NM_001012763) c.C613T:p. Arg205* (b). Red and orange arrows indicate the corresponding variant positions for major and minor transcripts, respectively. At the bottom of each panel, the exonic and intronic aggregates from RNA-seq data are indicated.

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