Linked Data
ClinVar Variation Id:
143180
ClinVar RCV Id:
RCV000132711
dbSNP Id:
rs527236135
gnomAD v4:
1-216231963-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.216231963G>A , CM000663.2:g.216231963G>A | GRCh38 |
| NC_000001.10:g.216405305G>A , CM000663.1:g.216405305G>A | GRCh37 |
| NC_000001.9:g.214471928G>A | NCBI36 |
| NG_009497.1:g.196434C>T | |
| NG_009497.2:g.196486C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.2983C>T (USH2A) MANE Select | ENSP00000305941.3:p.Gln995Ter | |
| ENST00000674083.1:c.2983C>T (USH2A) | ENSP00000501296.1:p.Gln995Ter | |
| ENST00000307340.7:c.2983C>T (USH2A) | ENSP00000305941.3:p.Gln995Ter | |
| ENST00000366942.3:c.2983C>T (USH2A) | ENSP00000355909.3:p.Gln995Ter | |
| NM_007123.5:c.2983C>T (USH2A) | NP_009054.5:p.Gln995Ter | |
| NM_206933.2:c.2983C>T (USH2A) | NP_996816.2:p.Gln995Ter | |
| XR_922596.1:n.463-5872G>A (USH2A-AS1) | ||
| XR_922597.1:n.355-5872G>A (USH2A-AS1) | ||
| XR_922596.3:n.1185-5872G>A (USH2A-AS1) | ||
| NM_206933.3:c.2983C>T (USH2A) | NP_996816.2:p.Gln995Ter | |
| NM_007123.6:c.2983C>T (USH2A) | NP_009054.6:p.Gln995Ter | |
| NM_206933.4:c.2983C>T (USH2A) MANE Select | NP_996816.3:p.Gln995Ter |