Linked Data
ClinVar Variation Id:
12713
dbSNP Id:
rs9406328
ExAC:
6:169635010 G / A
gnomAD v2:
6-169635010-G-A
gnomAD v3:
6-169234915-G-A
gnomAD v4:
6-169234915-G-A
PubMed:
PMID:18455130
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.169234915G>A , CM000668.2:g.169234915G>A | GRCh38 |
| NC_000006.11:g.169635010G>A , CM000668.1:g.169635010G>A | GRCh37 |
| NC_000006.10:g.169376935G>A | NCBI36 |
| NG_022911.1:g.24128C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617924.6:c.1478-8C>T (THBS2) MANE Select | ENSP00000482784.1:n.1478-8C>T | |
| ENST00000649844.1:c.1493-8C>T (THBS2) | ENSP00000497834.1:n.1493-8C>T | |
| ENST00000676498.1:c.1478-8C>T (THBS2) | ENSP00000504820.1:n.1478-8C>T | |
| ENST00000676628.1:c.1478-1898C>T (THBS2) | ENSP00000504416.1:n.1478-1898C>T | |
| ENST00000676760.1:c.1478-8C>T (THBS2) | ENSP00000503020.1:n.1478-8C>T | |
| ENST00000676869.1:c.1307-8C>T (THBS2) | ENSP00000504488.1:n.1307-8C>T | |
| ENST00000676941.1:c.587-8C>T (THBS2) | ENSP00000503028.1:n.587-8C>T | |
| ENST00000677398.1:n.1705-8C>T (THBS2) | ||
| ENST00000677429.1:c.*844-8C>T (THBS2) | ENSP00000503286.1:n.*844-8C>T | |
| ENST00000678378.1:n.863-8C>T (THBS2) | ||
| ENST00000366787.7:c.1478-8C>T (THBS2) | ENSP00000355751.3:n.1478-8C>T | |
| ENST00000461848.1:n.244-8C>T (THBS2) | ||
| ENST00000617924.4:c.1478-8C>T (THBS2) | ENSP00000482784.1:n.1478-8C>T | |
| NM_003247.3:c.1478-8C>T (THBS2) | NP_003238.2:n.1478-8C>T | |
| XR_943307.1:n.682-4310G>A (THBS2-AS1) | ||
| NR_134621.1:n.682-4310G>A (THBS2-AS1) | ||
| NM_003247.4:c.1478-8C>T (THBS2) | NP_003238.2:n.1478-8C>T | |
| NM_001381939.1:c.1478-1898C>T (THBS2) | NP_001368868.1:n.1478-1898C>T | |
| NM_001381940.1:c.1478-8C>T (THBS2) | NP_001368869.1:n.1478-8C>T | |
| NM_001381942.1:c.1247-8C>T (THBS2) | NP_001368871.1:n.1247-8C>T | |
| NM_003247.5:c.1478-8C>T (THBS2) MANE Select | NP_003238.2:n.1478-8C>T | |
| NR_167744.1:n.1623-8C>T (THBS2) | ||
| NR_167745.1:n.1752-8C>T (THBS2) |