Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.216073270A>C , CM000663.2:g.216073270A>C | GRCh38 |
| NC_000001.10:g.216246612A>C , CM000663.1:g.216246612A>C | GRCh37 |
| NC_000001.9:g.214313235A>C | NCBI36 |
| NG_009497.1:g.355127T>G | |
| NG_009497.2:g.355179T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.5603T>G (USH2A) MANE Select | ENSP00000305941.3:p.Phe1868Cys | |
| ENST00000674083.1:c.5603T>G (USH2A) | ENSP00000501296.1:p.Phe1868Cys | |
| ENST00000307340.7:c.5603T>G (USH2A) | ENSP00000305941.3:p.Phe1868Cys | |
| NM_206933.2:c.5603T>G (USH2A) | NP_996816.2:p.Phe1868Cys | |
| NR_125992.1:n.136+670A>C (USH2A-AS2) | ||
| NR_125993.1:n.136+670A>C (USH2A-AS2) | ||
| NM_206933.3:c.5603T>G (USH2A) | NP_996816.2:p.Phe1868Cys | |
| NM_206933.4:c.5603T>G (USH2A) MANE Select | NP_996816.3:p.Phe1868Cys |