Linked Data
ClinVar Variation Id:
1697454
ClinVar RCV Id:
RCV002268738
dbSNP Id:
rs372340557
ExAC:
9:22008779 C / A
gnomAD v2:
9-22008779-C-A
gnomAD v3:
9-22008780-C-A
gnomAD v4:
9-22008780-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.22008780C>A , CM000671.2:g.22008780C>A | GRCh38 |
| NC_000009.11:g.22008779C>A , CM000671.1:g.22008779C>A | GRCh37 |
| NC_000009.10:g.21998779C>A | NCBI36 |
| NG_023297.1:g.5534G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000276925.7:c.156+18G>T (CDKN2B) MANE Select | ENSP00000276925.6:n.156+18G>T | |
| ENST00000380142.5:c.174G>T (CDKN2B) | ENSP00000369487.4:p.Gly58= | |
| ENST00000404796.3:c.348-20653C>A | ENSP00000385916.2:n.348-20653C>A | |
| ENST00000276925.6:c.156+18G>T (CDKN2B) | ENSP00000276925.6:n.156+18G>T | |
| ENST00000380142.4:c.174G>T (CDKN2B) | ENSP00000369487.4:p.Gly58= | |
| ENST00000404796.2:c.348-20653C>A | ENSP00000385916.2:n.348-20653C>A | |
| NM_004936.3:c.156+18G>T (CDKN2B) | NP_004927.2:n.156+18G>T | |
| NM_078487.2:c.174G>T (CDKN2B) | NP_511042.1:p.Gly58= | |
| NR_003529.3:n.371+13619C>A (CDKN2B-AS1) | ||
| NR_047532.1:n.371+13619C>A (CDKN2B-AS1) | ||
| NR_047533.1:n.371+13619C>A (CDKN2B-AS1) | ||
| NR_047534.1:n.371+13619C>A (CDKN2B-AS1) | ||
| NR_047535.1:n.371+13619C>A (CDKN2B-AS1) | ||
| NR_047536.1:n.371+13619C>A (CDKN2B-AS1) | ||
| NR_047537.1:n.371+13619C>A (CDKN2B-AS1) | ||
| NR_047538.1:n.371+13619C>A (CDKN2B-AS1) | ||
| NR_047539.1:n.371+13619C>A (CDKN2B-AS1) | ||
| NR_047540.1:n.371+13619C>A (CDKN2B-AS1) | ||
| NR_047541.1:n.371+13619C>A (CDKN2B-AS1) | ||
| NR_047542.1:n.371+13619C>A (CDKN2B-AS1) | ||
| NR_047543.1:n.371+13619C>A (CDKN2B-AS1) | ||
| NR_120536.1:n.371+13619C>A (CDKN2B-AS1) | ||
| NM_004936.4:c.156+18G>T (CDKN2B) MANE Select | NP_004927.2:n.156+18G>T |