Linked Data
ClinVar Variation Id:
290988
ClinVar RCV Id:
RCV000271059
dbSNP Id:
rs886044611
gnomAD v3:
1-216200129-G-T
gnomAD v4:
1-216200129-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.216200129G>T , CM000663.2:g.216200129G>T | GRCh38 |
| NC_000001.10:g.216373471G>T , CM000663.1:g.216373471G>T | GRCh37 |
| NC_000001.9:g.214440094G>T | NCBI36 |
| NG_009497.1:g.228268C>A | |
| NG_009497.2:g.228320C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.3317-8C>A (USH2A) MANE Select | ENSP00000305941.3:n.3317-8C>A | |
| ENST00000674083.1:c.3317-8C>A (USH2A) | ENSP00000501296.1:n.3317-8C>A | |
| ENST00000307340.7:c.3317-8C>A (USH2A) | ENSP00000305941.3:n.3317-8C>A | |
| ENST00000366942.3:c.3317-8C>A (USH2A) | ENSP00000355909.3:n.3317-8C>A | |
| NM_007123.5:c.3317-8C>A (USH2A) | NP_009054.5:n.3317-8C>A | |
| NM_206933.2:c.3317-8C>A (USH2A) | NP_996816.2:n.3317-8C>A | |
| XR_922595.1:n.355-3901G>T (USH2A-AS1) | ||
| XR_922596.1:n.354+4204G>T (USH2A-AS1) | ||
| XR_922597.1:n.354+4204G>T (USH2A-AS1) | ||
| XR_922598.1:n.485-3901G>T (USH2A-AS1) | ||
| XR_922595.3:n.1077-3901G>T (USH2A-AS1) | ||
| XR_922596.3:n.1076+4204G>T (USH2A-AS1) | ||
| NM_206933.3:c.3317-8C>A (USH2A) | NP_996816.2:n.3317-8C>A | |
| NM_007123.6:c.3317-8C>A (USH2A) | NP_009054.6:n.3317-8C>A | |
| NM_206933.4:c.3317-8C>A (USH2A) MANE Select | NP_996816.3:n.3317-8C>A |