Linked Data
ClinVar Variation Id:
3041153
ClinVar RCV Id:
RCV003917280
dbSNP Id:
rs140600818
ExAC:
6:169629723 C / T
gnomAD v2:
6-169629723-C-T
gnomAD v3:
6-169229628-C-T
gnomAD v4:
6-169229628-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.169229628C>T , CM000668.2:g.169229628C>T | GRCh38 |
| NC_000006.11:g.169629723C>T , CM000668.1:g.169629723C>T | GRCh37 |
| NC_000006.10:g.169371648C>T | NCBI36 |
| NG_022911.1:g.29415G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617924.6:c.2203G>A (THBS2) MANE Select | ENSP00000482784.1:p.Gly735Arg | |
| ENST00000649844.1:c.2218G>A (THBS2) | ENSP00000497834.1:p.Gly740Arg | |
| ENST00000676498.1:c.2203G>A (THBS2) | ENSP00000504820.1:p.Gly735Arg | |
| ENST00000676628.1:c.2029G>A (THBS2) | ENSP00000504416.1:p.Gly677Arg | |
| ENST00000676760.1:c.2203G>A (THBS2) | ENSP00000503020.1:p.Gly735Arg | |
| ENST00000676869.1:c.2032G>A (THBS2) | ENSP00000504488.1:p.Gly678Arg | |
| ENST00000676941.1:c.1312G>A (THBS2) | ENSP00000503028.1:p.Gly438Arg | |
| ENST00000677429.1:c.*1569G>A (THBS2) | ENSP00000503286.1:n.*1569G>A | |
| ENST00000678378.1:n.1588G>A (THBS2) | ||
| ENST00000366787.7:c.2203G>A (THBS2) | ENSP00000355751.3:p.Gly735Arg | |
| ENST00000617924.4:c.2203G>A (THBS2) | ENSP00000482784.1:p.Gly735Arg | |
| NM_003247.3:c.2203G>A (THBS2) | NP_003238.2:p.Gly735Arg | |
| XR_943307.1:n.682-9597C>T (THBS2-AS1) | ||
| NR_134621.1:n.682-9597C>T (THBS2-AS1) | ||
| NM_003247.4:c.2203G>A (THBS2) | NP_003238.2:p.Gly735Arg | |
| NM_001381939.1:c.2029G>A (THBS2) | NP_001368868.1:p.Gly677Arg | |
| NM_001381942.1:c.1972G>A (THBS2) | NP_001368871.1:p.Gly658Arg | |
| NM_003247.5:c.2203G>A (THBS2) MANE Select | NP_003238.2:p.Gly735Arg | |
| NR_167744.1:n.2348G>A (THBS2) | ||
| NR_167745.1:n.2477G>A (THBS2) |