Linked Data
ClinVar Variation Id:
3059455
ClinVar RCV Id:
RCV003974426
dbSNP Id:
rs6422747
ExAC:
6:169629783 G / A
gnomAD v2:
6-169629783-G-A
gnomAD v3:
6-169229688-G-A
gnomAD v4:
6-169229688-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.169229688G>A , CM000668.2:g.169229688G>A | GRCh38 |
| NC_000006.11:g.169629783G>A , CM000668.1:g.169629783G>A | GRCh37 |
| NC_000006.10:g.169371708G>A | NCBI36 |
| NG_022911.1:g.29355C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617924.6:c.2152-9C>T (THBS2) MANE Select | ENSP00000482784.1:n.2152-9C>T | |
| ENST00000649844.1:c.2167-9C>T (THBS2) | ENSP00000497834.1:n.2167-9C>T | |
| ENST00000676498.1:c.2152-9C>T (THBS2) | ENSP00000504820.1:n.2152-9C>T | |
| ENST00000676628.1:c.1978-9C>T (THBS2) | ENSP00000504416.1:n.1978-9C>T | |
| ENST00000676760.1:c.2152-9C>T (THBS2) | ENSP00000503020.1:n.2152-9C>T | |
| ENST00000676869.1:c.1981-9C>T (THBS2) | ENSP00000504488.1:n.1981-9C>T | |
| ENST00000676941.1:c.1261-9C>T (THBS2) | ENSP00000503028.1:n.1261-9C>T | |
| ENST00000677429.1:c.*1518-9C>T (THBS2) | ENSP00000503286.1:n.*1518-9C>T | |
| ENST00000678378.1:n.1537-9C>T (THBS2) | ||
| ENST00000366787.7:c.2152-9C>T (THBS2) | ENSP00000355751.3:n.2152-9C>T | |
| ENST00000617924.4:c.2152-9C>T (THBS2) | ENSP00000482784.1:n.2152-9C>T | |
| NM_003247.3:c.2152-9C>T (THBS2) | NP_003238.2:n.2152-9C>T | |
| XR_943307.1:n.682-9537G>A (THBS2-AS1) | ||
| NR_134621.1:n.682-9537G>A (THBS2-AS1) | ||
| NM_003247.4:c.2152-9C>T (THBS2) | NP_003238.2:n.2152-9C>T | |
| NM_001381939.1:c.1978-9C>T (THBS2) | NP_001368868.1:n.1978-9C>T | |
| NM_001381942.1:c.1921-9C>T (THBS2) | NP_001368871.1:n.1921-9C>T | |
| NM_003247.5:c.2152-9C>T (THBS2) MANE Select | NP_003238.2:n.2152-9C>T | |
| NR_167744.1:n.2297-9C>T (THBS2) | ||
| NR_167745.1:n.2426-9C>T (THBS2) |