Linked Data
ClinVar Variation Id:
242590
ClinVar RCV Id:
RCV003727639
dbSNP Id:
rs794729204
gnomAD v2:
1-216373413-A-G
gnomAD v3:
1-216200071-A-G
gnomAD v4:
1-216200071-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.216200071A>G , CM000663.2:g.216200071A>G | GRCh38 |
| NC_000001.10:g.216373413A>G , CM000663.1:g.216373413A>G | GRCh37 |
| NC_000001.9:g.214440036A>G | NCBI36 |
| NG_009497.1:g.228326T>C | |
| NG_009497.2:g.228378T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.3367T>C (USH2A) MANE Select | ENSP00000305941.3:p.Tyr1123His | |
| ENST00000674083.1:c.3367T>C (USH2A) | ENSP00000501296.1:p.Tyr1123His | |
| ENST00000307340.7:c.3367T>C (USH2A) | ENSP00000305941.3:p.Tyr1123His | |
| ENST00000366942.3:c.3367T>C (USH2A) | ENSP00000355909.3:p.Tyr1123His | |
| NM_007123.5:c.3367T>C (USH2A) | NP_009054.5:p.Tyr1123His | |
| NM_206933.2:c.3367T>C (USH2A) | NP_996816.2:p.Tyr1123His | |
| XR_922595.1:n.355-3959A>G (USH2A-AS1) | ||
| XR_922596.1:n.354+4146A>G (USH2A-AS1) | ||
| XR_922597.1:n.354+4146A>G (USH2A-AS1) | ||
| XR_922598.1:n.485-3959A>G (USH2A-AS1) | ||
| XR_922595.3:n.1077-3959A>G (USH2A-AS1) | ||
| XR_922596.3:n.1076+4146A>G (USH2A-AS1) | ||
| NM_206933.3:c.3367T>C (USH2A) | NP_996816.2:p.Tyr1123His | |
| NM_007123.6:c.3367T>C (USH2A) | NP_009054.6:p.Tyr1123His | |
| NM_206933.4:c.3367T>C (USH2A) MANE Select | NP_996816.3:p.Tyr1123His |