Linked Data
ClinVar Variation Id:
2918
dbSNP Id:
rs104894652
gnomAD v2:
17-72919056-C-T
gnomAD v4:
17-74922961-C-T
MyVariant Identifiers:
chr17:g.72919056C>T (hg19)
chr17:g.72919056_72919058delinsTAG (hg19)
chr17:g.74922961C>T (hg38)
PubMed:
PMID:15660226
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.74922961C>T , CM000679.2:g.74922961C>T | GRCh38 |
| NC_000017.10:g.72919056C>T , CM000679.1:g.72919056C>T | GRCh37 |
| NC_000017.9:g.70430651C>T | NCBI36 |
| NG_007882.1:g.5296G>A | |
| NG_033062.1:g.3687C>T | |
| NG_007882.2:g.5303G>A | |
| NG_033062.2:g.3687C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000580223.2:c.-304C>T (OTOP2) | ENSP00000463837.2:n.-304C>T | |
| ENST00000614341.5:c.113G>A (USH1G) MANE Select | ENSP00000480279.1:p.Trp38Ter | |
| ENST00000579243.1:c.113G>A (USH1G) | ENSP00000462568.1:p.Trp38Ter | |
| ENST00000614341.4:c.113G>A (USH1G) | ENSP00000480279.1:p.Trp38Ter | |
| NM_001282489.2:c.-144G>A (USH1G) | NP_001269418.1:n.-144G>A | |
| NM_173477.4:c.113G>A (USH1G) | NP_775748.2:p.Trp38Ter | |
| XM_011525479.2:c.-304C>T (OTOP2) | XP_011523781.1:n.-304C>T | |
| NM_173477.5:c.113G>A (USH1G) MANE Select | NP_775748.2:p.Trp38Ter | |
| NM_001282489.3:c.-144G>A (USH1G) | NP_001269418.1:n.-144G>A |