Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.48544649G>A , CM000679.2:g.48544649G>A | GRCh38 |
| NC_000017.10:g.46622011G>A , CM000679.1:g.46622011G>A | GRCh37 |
| NC_000017.9:g.43977010G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330070.6:c.263C>T (HOXB2) MANE Select | ENSP00000331741.4:p.Ala88Val | |
| ENST00000330070.5:c.263C>T (HOXB2) | ENSP00000331741.4:p.Ala88Val | |
| NM_002145.3:c.263C>T (HOXB2) | NP_002136.1:p.Ala88Val | |
| NR_102279.1:n.62+237G>A (HOXB-AS1) | ||
| NM_002145.4:c.263C>T (HOXB2) MANE Select | NP_002136.1:p.Ala88Val |