Linked Data
dbSNP Id:
rs2069414
gnomAD v2:
12-56365699-C-A
gnomAD v3:
12-55971915-C-A
gnomAD v4:
12-55971915-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.55971915C>A , CM000674.2:g.55971915C>A | GRCh38 |
| NC_000012.11:g.56365699C>A , CM000674.1:g.56365699C>A | GRCh37 |
| NC_000012.10:g.54651966C>A | NCBI36 |
| NG_034014.1:g.10147C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000266970.9:c.*290C>A (CDK2) MANE Select | ENSP00000266970.4:n.*290C>A | |
| ENST00000266970.8:c.*290C>A (CDK2) | ENSP00000266970.4:n.*290C>A | |
| ENST00000549233.2:c.-95-148G>T (PMEL) | ENSP00000448871.1:n.-95-148G>T | |
| ENST00000553376.5:c.*290C>A (CDK2) | ENSP00000452514.1:n.*290C>A | |
| ENST00000555408.5:c.*1799C>A (CDK2) | ENSP00000450983.1:n.*1799C>A | |
| NM_001290230.1:c.*290C>A (CDK2) | NP_001277159.1:n.*290C>A | |
| NM_001798.4:c.*290C>A (CDK2) | NP_001789.2:n.*290C>A | |
| NM_052827.3:c.*290C>A (CDK2) | NP_439892.2:n.*290C>A | |
| XM_011537732.1:c.*290C>A (CDK2) | XP_011536034.1:n.*290C>A | |
| XM_011537732.2:c.*290C>A (CDK2) | XP_011536034.1:n.*290C>A | |
| NM_001798.5:c.*290C>A (CDK2) MANE Select | NP_001789.2:n.*290C>A | |
| NM_001290230.2:c.*290C>A (CDK2) | NP_001277159.1:n.*290C>A | |
| NM_052827.4:c.*290C>A (CDK2) | NP_439892.2:n.*290C>A |