Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.216078157G>A , CM000663.2:g.216078157G>A | GRCh38 |
| NC_000001.10:g.216251499G>A , CM000663.1:g.216251499G>A | GRCh37 |
| NC_000001.9:g.214318122G>A | NCBI36 |
| NG_009497.1:g.350240C>T | |
| NG_009497.2:g.350292C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_206933.4:c.5504C>T (USH2A) MANE Select | NP_996816.3:p.Ser1835Leu |
| ENST00000307340.8:c.5504C>T (USH2A) MANE Select | ENSP00000305941.3:p.Ser1835Leu |
| NM_206933.2:c.5504C>T (USH2A) | NP_996816.2:p.Ser1835Leu |
| NM_206933.3:c.5504C>T (USH2A) | NP_996816.2:p.Ser1835Leu |
| NR_125992.1:n.137-916G>A (USH2A-AS2) | |
| NR_125993.1:n.136+5557G>A (USH2A-AS2) | |
| ENST00000307340.7:c.5504C>T (USH2A) | ENSP00000305941.3:p.Ser1835Leu |
| ENST00000674083.1:c.5504C>T (USH2A) | ENSP00000501296.1:p.Ser1835Leu |