Linked Data
ClinVar Variation Id:
438021
ClinVar RCV Id:
RCV000504899
RCV000666545
RCV000627213
RCV001073573
RCV001002566
RCV001276258
RCV003389475
RCV003449425
dbSNP Id:
rs746551311
ExAC:
1:216369924 G / A
gnomAD v2:
1-216369924-G-A
gnomAD v3:
1-216196582-G-A
gnomAD v4:
1-216196582-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.216196582G>A , CM000663.2:g.216196582G>A | GRCh38 |
| NC_000001.10:g.216369924G>A , CM000663.1:g.216369924G>A | GRCh37 |
| NC_000001.9:g.214436547G>A | NCBI36 |
| NG_009497.1:g.231815C>T | |
| NG_009497.2:g.231867C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.4222C>T (USH2A) MANE Select | ENSP00000305941.3:p.Gln1408Ter | |
| ENST00000674083.1:c.4222C>T (USH2A) | ENSP00000501296.1:p.Gln1408Ter | |
| ENST00000307340.7:c.4222C>T (USH2A) | ENSP00000305941.3:p.Gln1408Ter | |
| ENST00000366942.3:c.4222C>T (USH2A) | ENSP00000355909.3:p.Gln1408Ter | |
| NM_007123.5:c.4222C>T (USH2A) | NP_009054.5:p.Gln1408Ter | |
| NM_206933.2:c.4222C>T (USH2A) | NP_996816.2:p.Gln1408Ter | |
| XR_922595.1:n.354+657G>A (USH2A-AS1) | ||
| XR_922596.1:n.354+657G>A (USH2A-AS1) | ||
| XR_922597.1:n.354+657G>A (USH2A-AS1) | ||
| XR_922598.1:n.484+657G>A (USH2A-AS1) | ||
| XR_922595.3:n.1076+657G>A (USH2A-AS1) | ||
| XR_922596.3:n.1076+657G>A (USH2A-AS1) | ||
| NM_206933.3:c.4222C>T (USH2A) | NP_996816.2:p.Gln1408Ter | |
| NM_007123.6:c.4222C>T (USH2A) | NP_009054.6:p.Gln1408Ter | |
| NM_206933.4:c.4222C>T (USH2A) MANE Select | NP_996816.3:p.Gln1408Ter |