Linked Data
ClinVar Variation Id:
2276399
ClinVar RCV Id:
RCV004128789
dbSNP Id:
rs752133535
ExAC:
6:169625468 C / T
gnomAD v2:
6-169625468-C-T
gnomAD v3:
6-169225373-C-T
gnomAD v4:
6-169225373-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.169225373C>T , CM000668.2:g.169225373C>T | GRCh38 |
| NC_000006.11:g.169625468C>T , CM000668.1:g.169625468C>T | GRCh37 |
| NC_000006.10:g.169367393C>T | NCBI36 |
| NG_022911.1:g.33670G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617924.6:c.2545G>A (THBS2) MANE Select | ENSP00000482784.1:p.Val849Met | |
| ENST00000649844.1:c.2560G>A (THBS2) | ENSP00000497834.1:p.Val854Met | |
| ENST00000676498.1:c.2545G>A (THBS2) | ENSP00000504820.1:p.Val849Met | |
| ENST00000676628.1:c.2371G>A (THBS2) | ENSP00000504416.1:p.Val791Met | |
| ENST00000676760.1:c.2545G>A (THBS2) | ENSP00000503020.1:p.Val849Met | |
| ENST00000676869.1:c.2374G>A (THBS2) | ENSP00000504488.1:p.Val792Met | |
| ENST00000676941.1:c.1654G>A (THBS2) | ENSP00000503028.1:p.Val552Met | |
| ENST00000677429.1:c.*1911G>A (THBS2) | ENSP00000503286.1:n.*1911G>A | |
| ENST00000678378.1:n.1930G>A (THBS2) | ||
| ENST00000366787.7:c.2545G>A (THBS2) | ENSP00000355751.3:p.Val849Met | |
| ENST00000617924.4:c.2545G>A (THBS2) | ENSP00000482784.1:p.Val849Met | |
| NM_003247.3:c.2545G>A (THBS2) | NP_003238.2:p.Val849Met | |
| XR_943307.1:n.681+10886C>T (THBS2-AS1) | ||
| NR_134621.1:n.681+10886C>T (THBS2-AS1) | ||
| NM_003247.4:c.2545G>A (THBS2) | NP_003238.2:p.Val849Met | |
| NM_001381939.1:c.2371G>A (THBS2) | NP_001368868.1:p.Val791Met | |
| NM_001381942.1:c.2314G>A (THBS2) | NP_001368871.1:p.Val772Met | |
| NM_003247.5:c.2545G>A (THBS2) MANE Select | NP_003238.2:p.Val849Met | |
| NR_167744.1:n.2690G>A (THBS2) | ||
| NR_167745.1:n.2819G>A (THBS2) |