Linked Data
ClinVar Variation Id:
541100
dbSNP Id:
rs61756667
ExAC:
6:111913009 C / T
gnomAD v2:
6-111913009-C-T
gnomAD v3:
6-111591806-C-T
gnomAD v4:
6-111591806-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.111591806C>T , CM000668.2:g.111591806C>T | GRCh38 |
| NC_000006.11:g.111913009C>T , CM000668.1:g.111913009C>T | GRCh37 |
| NC_000006.10:g.112019702C>T | NCBI36 |
| NG_032030.1:g.19469G>A | |
| NG_032030.2:g.19073G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651547.2:c.281G>A (TRAF3IP2) | ENSP00000514681.1:p.Ser94Asn | |
| ENST00000699910.1:c.281G>A (TRAF3IP2) | ENSP00000514682.1:p.Ser94Asn | |
| ENST00000699911.1:n.573G>A (TRAF3IP2) | ||
| ENST00000699912.1:n.879G>A (TRAF3IP2) | ||
| ENST00000699913.1:n.462G>A (TRAF3IP2) | ||
| ENST00000368761.11:c.281G>A (TRAF3IP2) MANE Select | ENSP00000357750.5:p.Ser94Asn | |
| ENST00000650859.1:c.308G>A (TRAF3IP2) | ENSP00000498890.1:p.Ser103Asn | |
| ENST00000651359.1:c.281G>A (TRAF3IP2) | ENSP00000499070.1:p.Ser94Asn | |
| ENST00000651547.1:n.599G>A (TRAF3IP2) | ||
| ENST00000340026.10:c.308G>A (TRAF3IP2) | ENSP00000345984.6:p.Ser103Asn | |
| ENST00000359831.8:c.281G>A (TRAF3IP2) | ENSP00000352889.4:p.Ser94Asn | |
| ENST00000368761.9:c.281G>A (TRAF3IP2) | ENSP00000357750.5:p.Ser94Asn | |
| ENST00000392556.8:c.308G>A (TRAF3IP2) | ENSP00000376339.5:p.Ser103Asn | |
| ENST00000528599.1:n.476G>A (TRAF3IP2) | ||
| ENST00000532708.5:n.507G>A (TRAF3IP2) | ||
| NM_001164281.2:c.281G>A (TRAF3IP2) | NP_001157753.1:p.Ser94Asn | |
| NM_147200.2:c.308G>A (TRAF3IP2) | NP_671733.2:p.Ser103Asn | |
| NM_147686.3:c.281G>A (TRAF3IP2) | NP_679211.2:p.Ser94Asn | |
| NR_034108.1:n.486-6032C>T (TRAF3IP2-AS1) | ||
| NR_034109.1:n.195-6032C>T (TRAF3IP2-AS1) | ||
| XM_011535386.1:c.308G>A (TRAF3IP2) | XP_011533688.1:p.Ser103Asn | |
| XM_011535386.2:c.308G>A (TRAF3IP2) | XP_011533688.1:p.Ser103Asn | |
| NM_147686.4:c.281G>A (TRAF3IP2) MANE Select | NP_679211.2:p.Ser94Asn | |
| NM_147200.3:c.308G>A (TRAF3IP2) | NP_671733.2:p.Ser103Asn | |
| NM_001164281.3:c.281G>A (TRAF3IP2) | NP_001157753.1:p.Ser94Asn |