Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.131301619A>G , CM000664.2:g.131301619A>G | GRCh38 |
| NC_000002.11:g.132059192A>G , CM000664.1:g.132059192A>G | GRCh37 |
| NC_000002.10:g.131775662A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000404460.5:c.424-51401A>G (PLEKHB2) | ENSP00000385609.1:n.424-51401A>G | |
| ENST00000425399.1:n.217-536A>G (FAR2P4) |