Linked Data
ClinVar Variation Id:
778927
ClinVar RCV Id:
RCV000959661
dbSNP Id:
rs35716236
ExAC:
6:169629724 G / A
gnomAD v2:
6-169629724-G-A
gnomAD v3:
6-169229629-G-A
gnomAD v4:
6-169229629-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.169229629G>A , CM000668.2:g.169229629G>A | GRCh38 |
| NC_000006.11:g.169629724G>A , CM000668.1:g.169629724G>A | GRCh37 |
| NC_000006.10:g.169371649G>A | NCBI36 |
| NG_022911.1:g.29414C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617924.6:c.2202C>T (THBS2) MANE Select | ENSP00000482784.1:p.Asp734= | |
| ENST00000649844.1:c.2217C>T (THBS2) | ENSP00000497834.1:p.Asp739= | |
| ENST00000676498.1:c.2202C>T (THBS2) | ENSP00000504820.1:p.Asp734= | |
| ENST00000676628.1:c.2028C>T (THBS2) | ENSP00000504416.1:p.Asp676= | |
| ENST00000676760.1:c.2202C>T (THBS2) | ENSP00000503020.1:p.Asp734= | |
| ENST00000676869.1:c.2031C>T (THBS2) | ENSP00000504488.1:p.Asp677= | |
| ENST00000676941.1:c.1311C>T (THBS2) | ENSP00000503028.1:p.Asp437= | |
| ENST00000677429.1:c.*1568C>T (THBS2) | ENSP00000503286.1:n.*1568C>T | |
| ENST00000678378.1:n.1587C>T (THBS2) | ||
| ENST00000366787.7:c.2202C>T (THBS2) | ENSP00000355751.3:p.Asp734= | |
| ENST00000617924.4:c.2202C>T (THBS2) | ENSP00000482784.1:p.Asp734= | |
| NM_003247.3:c.2202C>T (THBS2) | NP_003238.2:p.Asp734= | |
| XR_943307.1:n.682-9596G>A (THBS2-AS1) | ||
| NR_134621.1:n.682-9596G>A (THBS2-AS1) | ||
| NM_003247.4:c.2202C>T (THBS2) | NP_003238.2:p.Asp734= | |
| NM_001381939.1:c.2028C>T (THBS2) | NP_001368868.1:p.Asp676= | |
| NM_001381942.1:c.1971C>T (THBS2) | NP_001368871.1:p.Asp657= | |
| NM_003247.5:c.2202C>T (THBS2) MANE Select | NP_003238.2:p.Asp734= | |
| NR_167744.1:n.2347C>T (THBS2) | ||
| NR_167745.1:n.2476C>T (THBS2) |