Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.216086761C>A , CM000663.2:g.216086761C>A | GRCh38 |
| NC_000001.10:g.216260103C>A , CM000663.1:g.216260103C>A | GRCh37 |
| NC_000001.9:g.214326726C>A | NCBI36 |
| NG_009497.1:g.341636G>T | |
| NG_009497.2:g.341688G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_206933.4:c.4945G>T (USH2A) MANE Select | NP_996816.3:p.Gly1649Ter |
| ENST00000307340.8:c.4945G>T (USH2A) MANE Select | ENSP00000305941.3:p.Gly1649Ter |
| NM_206933.2:c.4945G>T (USH2A) | NP_996816.2:p.Gly1649Ter |
| NM_206933.3:c.4945G>T (USH2A) | NP_996816.2:p.Gly1649Ter |
| NR_125992.1:n.305C>A (USH2A-AS2) | |
| NR_125993.1:n.176C>A (USH2A-AS2) | |
| ENST00000307340.7:c.4945G>T (USH2A) | ENSP00000305941.3:p.Gly1649Ter |
| ENST00000481786.1:n.187G>T (USH2A) | |
| ENST00000674083.1:c.4945G>T (USH2A) | ENSP00000501296.1:p.Gly1649Ter |