gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.30422475 (AFR)
Genomes Max Group AF
0.30422475 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.55972376G>C , CM000674.2:g.55972376G>C | GRCh38 |
| NC_000012.11:g.56366160G>C , CM000674.1:g.56366160G>C | GRCh37 |
| NC_000012.10:g.54652427G>C | NCBI36 |
| NG_034014.1:g.10608G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266970.9:c.*751G>C (CDK2) MANE Select | ENSP00000266970.4:n.*751G>C | |
| ENST00000266970.8:c.*751G>C (CDK2) | ENSP00000266970.4:n.*751G>C | |
| ENST00000549233.2:c.-95-609C>G (PMEL) | ENSP00000448871.1:n.-95-609C>G | |
| ENST00000555408.5:c.*2260G>C (CDK2) | ENSP00000450983.1:n.*2260G>C | |
| NM_001290230.1:c.*751G>C (CDK2) | NP_001277159.1:n.*751G>C | |
| NM_001798.4:c.*751G>C (CDK2) | NP_001789.2:n.*751G>C | |
| NM_052827.3:c.*751G>C (CDK2) | NP_439892.2:n.*751G>C | |
| XM_011537732.1:c.*751G>C (CDK2) | XP_011536034.1:n.*751G>C | |
| XM_011537732.2:c.*751G>C (CDK2) | XP_011536034.1:n.*751G>C | |
| NM_001798.5:c.*751G>C (CDK2) MANE Select | NP_001789.2:n.*751G>C | |
| NM_001290230.2:c.*751G>C (CDK2) | NP_001277159.1:n.*751G>C | |
| NM_052827.4:c.*751G>C (CDK2) | NP_439892.2:n.*751G>C |