Linked Data
dbSNP Id:
rs1345033788
gnomAD v2:
1-216371336-G-A
gnomAD v3:
1-216197994-G-A
gnomAD v4:
1-216197994-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.216197994G>A , CM000663.2:g.216197994G>A | GRCh38 |
| NC_000001.10:g.216371336G>A , CM000663.1:g.216371336G>A | GRCh37 |
| NC_000001.9:g.214437959G>A | NCBI36 |
| NG_009497.1:g.230403C>T | |
| NG_009497.2:g.230455C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.4081+321C>T (USH2A) MANE Select | ENSP00000305941.3:n.4081+321C>T | |
| ENST00000674083.1:c.4081+321C>T (USH2A) | ENSP00000501296.1:n.4081+321C>T | |
| ENST00000307340.7:c.4081+321C>T (USH2A) | ENSP00000305941.3:n.4081+321C>T | |
| ENST00000366942.3:c.4081+321C>T (USH2A) | ENSP00000355909.3:n.4081+321C>T | |
| NM_007123.5:c.4081+321C>T (USH2A) | NP_009054.5:n.4081+321C>T | |
| NM_206933.2:c.4081+321C>T (USH2A) | NP_996816.2:n.4081+321C>T | |
| XR_922595.1:n.354+2069G>A (USH2A-AS1) | ||
| XR_922596.1:n.354+2069G>A (USH2A-AS1) | ||
| XR_922597.1:n.354+2069G>A (USH2A-AS1) | ||
| XR_922598.1:n.484+2069G>A (USH2A-AS1) | ||
| XR_922595.3:n.1076+2069G>A (USH2A-AS1) | ||
| XR_922596.3:n.1076+2069G>A (USH2A-AS1) | ||
| NM_206933.3:c.4081+321C>T (USH2A) | NP_996816.2:n.4081+321C>T | |
| NM_007123.6:c.4081+321C>T (USH2A) | NP_009054.6:n.4081+321C>T | |
| NM_206933.4:c.4081+321C>T (USH2A) MANE Select | NP_996816.3:n.4081+321C>T |