Linked Data
ClinVar Variation Id:
812643
ClinVar RCV Id:
RCV001003461
dbSNP Id:
rs3217986
gnomAD v2:
9-22005330-T-G
gnomAD v3:
9-22005331-T-G
gnomAD v4:
9-22005331-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.22005331T>G , CM000671.2:g.22005331T>G | GRCh38 |
| NC_000009.11:g.22005330T>G , CM000671.1:g.22005330T>G | GRCh37 |
| NC_000009.10:g.21995330T>G | NCBI36 |
| NG_023297.1:g.8983A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000276925.7:c.*656A>C (CDKN2B) MANE Select | ENSP00000276925.6:n.*656A>C | |
| ENST00000380142.5:c.*959A>C (CDKN2B) | ENSP00000369487.4:n.*959A>C | |
| ENST00000404796.3:c.348-24102T>G | ENSP00000385916.2:n.348-24102T>G | |
| ENST00000276925.6:c.*656A>C (CDKN2B) | ENSP00000276925.6:n.*656A>C | |
| ENST00000404796.2:c.348-24102T>G | ENSP00000385916.2:n.348-24102T>G | |
| ENST00000579591.1:n.941A>C (CDKN2B) | ||
| NM_004936.3:c.*656A>C (CDKN2B) | NP_004927.2:n.*656A>C | |
| NM_078487.2:c.*959A>C (CDKN2B) | NP_511042.1:n.*959A>C | |
| NR_003529.3:n.371+10170T>G (CDKN2B-AS1) | ||
| NR_047532.1:n.371+10170T>G (CDKN2B-AS1) | ||
| NR_047533.1:n.371+10170T>G (CDKN2B-AS1) | ||
| NR_047534.1:n.371+10170T>G (CDKN2B-AS1) | ||
| NR_047535.1:n.371+10170T>G (CDKN2B-AS1) | ||
| NR_047536.1:n.371+10170T>G (CDKN2B-AS1) | ||
| NR_047537.1:n.371+10170T>G (CDKN2B-AS1) | ||
| NR_047538.1:n.371+10170T>G (CDKN2B-AS1) | ||
| NR_047539.1:n.371+10170T>G (CDKN2B-AS1) | ||
| NR_047540.1:n.371+10170T>G (CDKN2B-AS1) | ||
| NR_047541.1:n.371+10170T>G (CDKN2B-AS1) | ||
| NR_047542.1:n.371+10170T>G (CDKN2B-AS1) | ||
| NR_047543.1:n.371+10170T>G (CDKN2B-AS1) | ||
| NR_120536.1:n.371+10170T>G (CDKN2B-AS1) | ||
| NM_004936.4:c.*656A>C (CDKN2B) MANE Select | NP_004927.2:n.*656A>C |