Linked Data
ClinVar Variation Id:
1279271
ClinVar RCV Id:
RCV001690992
dbSNP Id:
rs2069426
ExAC:
9:22006273 G / T
gnomAD v2:
9-22006273-G-T
gnomAD v3:
9-22006274-G-T
gnomAD v4:
9-22006274-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.22006274G>T , CM000671.2:g.22006274G>T | GRCh38 |
| NC_000009.11:g.22006273G>T , CM000671.1:g.22006273G>T | GRCh37 |
| NC_000009.10:g.21996273G>T | NCBI36 |
| NG_023297.1:g.8040C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000276925.7:c.157-27C>A (CDKN2B) MANE Select | ENSP00000276925.6:n.157-27C>A | |
| ENST00000380142.5:c.*43-27C>A (CDKN2B) | ENSP00000369487.4:n.*43-27C>A | |
| ENST00000404796.3:c.348-23159G>T | ENSP00000385916.2:n.348-23159G>T | |
| ENST00000276925.6:c.157-27C>A (CDKN2B) | ENSP00000276925.6:n.157-27C>A | |
| ENST00000380142.4:c.*43-27C>A (CDKN2B) | ENSP00000369487.4:n.*43-27C>A | |
| ENST00000404796.2:c.348-23159G>T | ENSP00000385916.2:n.348-23159G>T | |
| NM_004936.3:c.157-27C>A (CDKN2B) | NP_004927.2:n.157-27C>A | |
| NM_078487.2:c.*43-27C>A (CDKN2B) | NP_511042.1:n.*43-27C>A | |
| NR_003529.3:n.371+11113G>T (CDKN2B-AS1) | ||
| NR_047532.1:n.371+11113G>T (CDKN2B-AS1) | ||
| NR_047533.1:n.371+11113G>T (CDKN2B-AS1) | ||
| NR_047534.1:n.371+11113G>T (CDKN2B-AS1) | ||
| NR_047535.1:n.371+11113G>T (CDKN2B-AS1) | ||
| NR_047536.1:n.371+11113G>T (CDKN2B-AS1) | ||
| NR_047537.1:n.371+11113G>T (CDKN2B-AS1) | ||
| NR_047538.1:n.371+11113G>T (CDKN2B-AS1) | ||
| NR_047539.1:n.371+11113G>T (CDKN2B-AS1) | ||
| NR_047540.1:n.371+11113G>T (CDKN2B-AS1) | ||
| NR_047541.1:n.371+11113G>T (CDKN2B-AS1) | ||
| NR_047542.1:n.371+11113G>T (CDKN2B-AS1) | ||
| NR_047543.1:n.371+11113G>T (CDKN2B-AS1) | ||
| NR_120536.1:n.371+11113G>T (CDKN2B-AS1) | ||
| NM_004936.4:c.157-27C>A (CDKN2B) MANE Select | NP_004927.2:n.157-27C>A |