Linked Data
ClinVar Variation Id:
161858
ClinVar RCV Id:
RCV000149394
dbSNP Id:
rs193921072
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.216072909C>A , CM000663.2:g.216072909C>A | GRCh38 |
| NC_000001.10:g.216246251C>A , CM000663.1:g.216246251C>A | GRCh37 |
| NC_000001.9:g.214312874C>A | NCBI36 |
| NG_009497.1:g.355488G>T | |
| NG_009497.2:g.355540G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.5837G>T (USH2A) MANE Select | ENSP00000305941.3:p.Arg1946Leu | |
| ENST00000674083.1:c.5837G>T (USH2A) | ENSP00000501296.1:p.Arg1946Leu | |
| ENST00000307340.7:c.5837G>T (USH2A) | ENSP00000305941.3:p.Arg1946Leu | |
| NM_206933.2:c.5837G>T (USH2A) | NP_996816.2:p.Arg1946Leu | |
| NR_125992.1:n.136+309C>A (USH2A-AS2) | ||
| NR_125993.1:n.136+309C>A (USH2A-AS2) | ||
| NM_206933.3:c.5837G>T (USH2A) | NP_996816.2:p.Arg1946Leu | |
| NM_206933.4:c.5837G>T (USH2A) MANE Select | NP_996816.3:p.Arg1946Leu |