Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.216078214A>C , CM000663.2:g.216078214A>C | GRCh38 |
| NC_000001.10:g.216251556A>C , CM000663.1:g.216251556A>C | GRCh37 |
| NC_000001.9:g.214318179A>C | NCBI36 |
| NG_009497.1:g.350183T>G | |
| NG_009497.2:g.350235T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_206933.4:c.5447T>G (USH2A) MANE Select | NP_996816.3:p.Val1816Gly |
| ENST00000307340.8:c.5447T>G (USH2A) MANE Select | ENSP00000305941.3:p.Val1816Gly |
| NM_206933.2:c.5447T>G (USH2A) | NP_996816.2:p.Val1816Gly |
| NM_206933.3:c.5447T>G (USH2A) | NP_996816.2:p.Val1816Gly |
| NR_125992.1:n.137-859A>C (USH2A-AS2) | |
| NR_125993.1:n.136+5614A>C (USH2A-AS2) | |
| ENST00000307340.7:c.5447T>G (USH2A) | ENSP00000305941.3:p.Val1816Gly |
| ENST00000674083.1:c.5447T>G (USH2A) | ENSP00000501296.1:p.Val1816Gly |