Linked Data
ClinVar Variation Id:
11516
ClinVar RCV Id:
RCV000012272
dbSNP Id:
rs587776753
PubMed:
PMID:12919139
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.13716530A>G , CM000685.2:g.13716530A>G | GRCh38 |
| NC_000023.10:g.13734649A>G , CM000685.1:g.13734649A>G | GRCh37 |
| NC_000023.9:g.13644570A>G | NCBI36 |
| NG_011555.1:g.23094T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000458511.7:c.238+4T>C (TRAPPC2) | ENSP00000392495.3:n.238+4T>C | |
| ENST00000518847.2:c.238+4T>C (TRAPPC2) | ENSP00000428900.2:n.238+4T>C | |
| ENST00000683569.1:c.238+4T>C (TRAPPC2) | ENSP00000508155.1:n.238+4T>C | |
| ENST00000683983.1:c.340+4T>C (TRAPPC2) | ENSP00000507474.1:n.340+4T>C | |
| ENST00000380579.6:c.238+4T>C (TRAPPC2) MANE Select | ENSP00000369953.1:n.238+4T>C | |
| ENST00000359680.9:c.238+4T>C (TRAPPC2) | ENSP00000352708.5:n.238+4T>C | |
| ENST00000380578.1:n.2515+4T>C (TRAPPC2) | ||
| ENST00000380579.5:c.238+4T>C (TRAPPC2) | ENSP00000369953.1:n.238+4T>C | |
| ENST00000458511.6:c.340+4T>C (TRAPPC2) | ENSP00000392495.2:n.340+4T>C | |
| ENST00000517553.1:n.185+4T>C (TRAPPC2) | ||
| ENST00000519382.1:n.418T>C (TRAPPC2) | ||
| ENST00000519885.5:c.238+4T>C (TRAPPC2) | ENSP00000430725.1:n.238+4T>C | |
| NM_001011658.3:c.238+4T>C (TRAPPC2) | NP_001011658.1:n.238+4T>C | |
| NM_001128835.2:c.340+4T>C (TRAPPC2) | NP_001122307.2:n.340+4T>C | |
| NM_014563.5:c.238+4T>C (TRAPPC2) | NP_055378.1:n.238+4T>C | |
| XM_005274599.2:c.33+736A>G (OFD1) | XP_005274656.1:n.33+736A>G | |
| XM_005274602.2:c.33+736A>G (OFD1) | XP_005274659.1:n.33+736A>G | |
| XM_005274603.2:c.33+736A>G (OFD1) | XP_005274660.1:n.33+736A>G | |
| XM_011545565.1:c.238+4T>C (TRAPPC2) | XP_011543867.1:n.238+4T>C | |
| XM_011545566.1:c.238+4T>C (TRAPPC2) | XP_011543868.1:n.238+4T>C | |
| XM_011545591.1:c.33+736A>G (OFD1) | XP_011543893.1:n.33+736A>G | |
| XM_011545593.1:c.33+736A>G (OFD1) | XP_011543895.1:n.33+736A>G | |
| XM_011545596.1:c.33+736A>G (OFD1) | XP_011543898.1:n.33+736A>G | |
| XR_247288.2:n.372+736A>G (OFD1) | ||
| XM_011545566.2:c.238+4T>C (TRAPPC2) | XP_011543868.1:n.238+4T>C | |
| NM_001011658.4:c.238+4T>C (TRAPPC2) MANE Select | NP_001011658.1:n.238+4T>C | |
| NM_001128835.3:c.340+4T>C (TRAPPC2) | NP_001122307.2:n.340+4T>C | |
| NM_014563.6:c.238+4T>C (TRAPPC2) | NP_055378.1:n.238+4T>C |