Linked Data
ClinVar Variation Id:
88768
ClinVar RCV Id:
RCV000074416
dbSNP Id:
rs397518485
PubMed:
PMID:24120361
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.111559523G>A , CM000668.2:g.111559523G>A | GRCh38 |
| NC_000006.11:g.111880726G>A , CM000668.1:g.111880726G>A | GRCh37 |
| NC_000006.10:g.111987419G>A | NCBI36 |
| NG_032030.1:g.51752C>T | |
| NG_032030.2:g.51356C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000651547.2:c.1580C>T (TRAF3IP2) | ENSP00000514681.1:p.Thr527Ile | |
| ENST00000699907.1:n.814C>T (TRAF3IP2) | ||
| ENST00000699908.1:n.473C>T (TRAF3IP2) | ||
| ENST00000699909.1:n.1108C>T (TRAF3IP2) | ||
| ENST00000368761.11:c.1580C>T (TRAF3IP2) MANE Select | ENSP00000357750.5:p.Thr527Ile | |
| ENST00000340026.10:c.1607C>T (TRAF3IP2) | ENSP00000345984.6:p.Thr536Ile | |
| ENST00000359831.8:c.1577C>T (TRAF3IP2) | ENSP00000352889.4:p.Thr526Ile | |
| ENST00000368730.5:n.451C>T (TRAF3IP2) | ||
| ENST00000368731.6:n.845C>T (TRAF3IP2) | ||
| ENST00000368734.5:n.345C>T (TRAF3IP2) | ||
| ENST00000368735.1:c.212C>T (TRAF3IP2) | ENSP00000357724.1:p.Thr71Ile | |
| ENST00000368761.9:c.1580C>T (TRAF3IP2) | ENSP00000357750.5:p.Thr527Ile | |
| ENST00000392556.8:c.1607C>T (TRAF3IP2) | ENSP00000376339.5:p.Thr536Ile | |
| ENST00000492671.1:n.86C>T (TRAF3IP2) | ||
| NM_001164281.2:c.1577C>T (TRAF3IP2) | NP_001157753.1:p.Thr526Ile | |
| NM_001164283.2:c.212C>T (TRAF3IP2) | NP_001157755.1:p.Thr71Ile | |
| NM_147200.2:c.1607C>T (TRAF3IP2) | NP_671733.2:p.Thr536Ile | |
| NM_147686.3:c.1580C>T (TRAF3IP2) | NP_679211.2:p.Thr527Ile | |
| NR_034108.1:n.195-15098G>A (TRAF3IP2-AS1) | ||
| NR_034109.1:n.195-38315G>A (TRAF3IP2-AS1) | ||
| NR_034110.1:n.195-15098G>A (TRAF3IP2-AS1) | ||
| XM_006715319.2:c.212C>T (TRAF3IP2) | XP_006715382.1:p.Thr71Ile | |
| XM_011535386.1:c.1607C>T (TRAF3IP2) | XP_011533688.1:p.Thr536Ile | |
| XM_006715319.4:c.212C>T (TRAF3IP2) | XP_006715382.1:p.Thr71Ile | |
| XM_011535386.2:c.1607C>T (TRAF3IP2) | XP_011533688.1:p.Thr536Ile | |
| NM_147686.4:c.1580C>T (TRAF3IP2) MANE Select | NP_679211.2:p.Thr527Ile | |
| NM_001164283.3:c.212C>T (TRAF3IP2) | NP_001157755.1:p.Thr71Ile | |
| NM_147200.3:c.1607C>T (TRAF3IP2) | NP_671733.2:p.Thr536Ile | |
| NM_001164281.3:c.1577C>T (TRAF3IP2) | NP_001157753.1:p.Thr526Ile |