Linked Data
ClinVar Variation Id:
48544
ClinVar RCV Id:
RCV000041870
RCV000295857
RCV000675153
RCV001004785
RCV001074605
RCV002291270
RCV001036145
dbSNP Id:
rs397518022
gnomAD v2:
1-216246229-A-G
gnomAD v3:
1-216072887-A-G
gnomAD v4:
1-216072887-A-G
ERepo:
CA262109/MONDO:0019501/005
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.216072887A>G , CM000663.2:g.216072887A>G | GRCh38 |
| NC_000001.10:g.216246229A>G , CM000663.1:g.216246229A>G | GRCh37 |
| NC_000001.9:g.214312852A>G | NCBI36 |
| NG_009497.1:g.355510T>C | |
| NG_009497.2:g.355562T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.5857+2T>C (USH2A) MANE Select | ENSP00000305941.3:n.5857+2T>C | |
| ENST00000674083.1:c.5857+2T>C (USH2A) | ENSP00000501296.1:n.5857+2T>C | |
| ENST00000307340.7:c.5857+2T>C (USH2A) | ENSP00000305941.3:n.5857+2T>C | |
| NM_206933.2:c.5857+2T>C (USH2A) | NP_996816.2:n.5857+2T>C | |
| NR_125992.1:n.136+287A>G (USH2A-AS2) | ||
| NR_125993.1:n.136+287A>G (USH2A-AS2) | ||
| NM_206933.3:c.5857+2T>C (USH2A) | NP_996816.2:n.5857+2T>C | |
| NM_206933.4:c.5857+2T>C (USH2A) MANE Select | NP_996816.3:n.5857+2T>C |