gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00060357 (NFE)
Genomes Max Group AF
0.00032637 (NFE)
Exomes Max Group AF
0.00064105 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.13734121C>T , CM000685.2:g.13734121C>T | GRCh38 |
| NC_000023.10:g.13752240C>T , CM000685.1:g.13752240C>T | GRCh37 |
| NC_000023.9:g.13662161C>T | NCBI36 |
| NG_008872.1:g.4409C>T | |
| NG_011555.1:g.5503G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000458511.7:c.-90+404G>A (TRAPPC2) | ENSP00000392495.3:n.-90+404G>A | |
| ENST00000683569.1:c.-167G>A (TRAPPC2) | ENSP00000508155.1:n.-167G>A | |
| ENST00000683983.1:c.12G>A (TRAPPC2) | ENSP00000507474.1:p.Trp4Ter | |
| ENST00000380579.6:c.-97G>A (TRAPPC2) MANE Select | ENSP00000369953.1:n.-97G>A | |
| ENST00000359680.9:c.-20+404G>A (TRAPPC2) | ENSP00000352708.5:n.-20+404G>A | |
| ENST00000380579.5:c.-97G>A (TRAPPC2) | ENSP00000369953.1:n.-97G>A | |
| ENST00000458511.6:c.12G>A (TRAPPC2) | ENSP00000392495.2:p.Trp4Ter | |
| ENST00000518847.1:c.-167G>A (TRAPPC2) | ENSP00000428900.1:n.-167G>A | |
| ENST00000519382.1:n.86G>A (TRAPPC2) | ||
| ENST00000519885.5:c.-20+404G>A (TRAPPC2) | ENSP00000430725.1:n.-20+404G>A | |
| NM_001011658.3:c.-97G>A (TRAPPC2) | NP_001011658.1:n.-97G>A | |
| NM_001128835.2:c.12G>A (TRAPPC2) | NP_001122307.2:p.Trp4Ter | |
| NM_014563.5:c.-20+404G>A (TRAPPC2) | NP_055378.1:n.-20+404G>A | |
| XM_005274599.2:c.34-1127C>T (OFD1) | XP_005274656.1:n.34-1127C>T | |
| XM_005274602.2:c.34-1127C>T (OFD1) | XP_005274659.1:n.34-1127C>T | |
| XM_005274603.2:c.34-1127C>T (OFD1) | XP_005274660.1:n.34-1127C>T | |
| XM_011545565.1:c.-167G>A (TRAPPC2) | XP_011543867.1:n.-167G>A | |
| XM_011545566.1:c.-90+404G>A (TRAPPC2) | XP_011543868.1:n.-90+404G>A | |
| XM_011545591.1:c.34-1127C>T (OFD1) | XP_011543893.1:n.34-1127C>T | |
| XM_011545593.1:c.34-1127C>T (OFD1) | XP_011543895.1:n.34-1127C>T | |
| XM_011545596.1:c.34-1127C>T (OFD1) | XP_011543898.1:n.34-1127C>T | |
| XR_247288.2:n.373-1127C>T (OFD1) | ||
| XM_011545566.2:c.-90+404G>A (TRAPPC2) | XP_011543868.1:n.-90+404G>A | |
| NM_001011658.4:c.-97G>A (TRAPPC2) MANE Select | NP_001011658.1:n.-97G>A | |
| NM_001128835.3:c.12G>A (TRAPPC2) | NP_001122307.2:p.Trp4Ter | |
| NM_014563.6:c.-20+404G>A (TRAPPC2) | NP_055378.1:n.-20+404G>A |