Linked Data
dbSNP Id:
rs756566814
ExAC:
12:4383266 G / A
gnomAD v2:
12-4383266-G-A
gnomAD v4:
12-4274100-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.4274100G>A , CM000674.2:g.4274100G>A | GRCh38 |
| NC_000012.11:g.4383266G>A , CM000674.1:g.4383266G>A | GRCh37 |
| NC_000012.10:g.4253527G>A | NCBI36 |
| NG_034254.1:g.5365G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261254.8:c.60G>A (CCND2) MANE Select | ENSP00000261254.3:p.Leu20= | |
| ENST00000536537.2:n.339G>A (CCND2) | ||
| ENST00000648100.1:c.60G>A | ENSP00000497536.1:p.Leu20= | |
| ENST00000674624.1:c.60G>A | ENSP00000501898.1:p.Leu20= | |
| ENST00000675880.1:c.60G>A (CCND2) | ENSP00000502508.1:p.Leu20= | |
| ENST00000676279.1:c.60G>A (CCND2) | ENSP00000502597.1:p.Leu20= | |
| ENST00000676411.1:c.60G>A (CCND2) | ENSP00000502654.1:p.Leu20= | |
| ENST00000261254.7:c.60G>A (CCND2) | ENSP00000261254.3:p.Leu20= | |
| NM_001759.3:c.60G>A (CCND2) | NP_001750.1:p.Leu20= | |
| NR_125790.1:n.126+1959C>T (CCND2-AS1) | ||
| XM_005253813.3:c.60G>A (CCND2) | XP_005253870.1:p.Leu20= | |
| NR_149145.1:n.182+1196C>T (CCND2-AS1) | ||
| NR_149146.1:n.182+1196C>T (CCND2-AS1) | ||
| NM_001759.4:c.60G>A (CCND2) MANE Select | NP_001750.1:p.Leu20= |