Linked Data
ClinVar Variation Id:
3058934
ClinVar RCV Id:
RCV003979559
dbSNP Id:
rs1926447
ExAC:
13:46629944 A / G
gnomAD v2:
13-46629944-A-G
gnomAD v3:
13-46055809-A-G
gnomAD v4:
13-46055809-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.46055809A>G , CM000675.2:g.46055809A>G | GRCh38 |
| NC_000013.10:g.46629944A>G , CM000675.1:g.46629944A>G | GRCh37 |
| NC_000013.9:g.45527945A>G | NCBI36 |
| NG_032893.2:g.54225T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000181383.10:c.1040T>C (CPB2) MANE Select | ENSP00000181383.4:p.Ile347Thr | |
| ENST00000439329.5:c.929T>C (CPB2) | ENSP00000400714.3:p.Ile310Thr | |
| ENST00000675730.1:c.*172T>C (CPB2) | ENSP00000502038.1:n.*172T>C | |
| ENST00000181383.8:c.1040T>C (CPB2) | ENSP00000181383.4:p.Ile347Thr | |
| ENST00000439329.4:c.929T>C (CPB2) | ENSP00000400714.3:p.Ile310Thr | |
| NM_001278541.1:c.929T>C (CPB2) | NP_001265470.1:p.Ile310Thr | |
| NM_001872.4:c.1040T>C (CPB2) | NP_001863.3:p.Ile347Thr | |
| NR_046226.1:n.118+2844A>G (CPB2-AS1) | ||
| NR_046227.1:n.118+2844A>G (CPB2-AS1) | ||
| XM_017020393.2:c.1013T>C (CPB2) | XP_016875882.1:p.Ile338Thr | |
| NM_001872.5:c.1040T>C (CPB2) MANE Select | NP_001863.3:p.Ile347Thr | |
| NM_001278541.2:c.929T>C (CPB2) | NP_001265470.1:p.Ile310Thr |