Linked Data
ClinVar Variation Id:
2603874
ClinVar RCV Id:
RCV004346444
dbSNP Id:
rs199792438
ExAC:
22:24837105 G / A
gnomAD v2:
22-24837105-G-A
gnomAD v3:
22-24441137-G-A
gnomAD v4:
22-24441137-G-A
COSMIC:
COSM3310127
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.24441137G>A , CM000684.2:g.24441137G>A | GRCh38 |
| NC_000022.10:g.24837105G>A , CM000684.1:g.24837105G>A | GRCh37 |
| NC_000022.9:g.23167105G>A | NCBI36 |
| NG_052804.1:g.22541G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337539.12:c.887G>A (ADORA2A) MANE Select | ENSP00000336630.6:p.Arg296His | |
| ENST00000337539.11:c.887G>A (ADORA2A) | ENSP00000336630.6:p.Arg296His | |
| ENST00000358654.2:c.*2022G>A (SPECC1L-ADORA2A) | ENSP00000351480.2:n.*2022G>A | |
| ENST00000444262.6:c.887G>A (ADORA2A) | ENSP00000414802.2:p.Arg296His | |
| ENST00000496497.1:n.655G>A (ADORA2A) | ||
| ENST00000610595.4:c.887G>A (SPECC1L-ADORA2A) | ENSP00000480012.1:p.Arg296His | |
| ENST00000611543.4:c.887G>A (SPECC1L-ADORA2A) | ENSP00000483102.1:p.Arg296His | |
| ENST00000618076.3:c.887G>A (SPECC1L-ADORA2A) | ENSP00000481552.1:p.Arg296His | |
| NM_000675.5:c.887G>A (ADORA2A) | NP_000666.2:p.Arg296His | |
| NM_001278497.1:c.887G>A (ADORA2A) | NP_001265426.1:p.Arg296His | |
| NM_001278498.1:c.887G>A (ADORA2A) | NP_001265427.1:p.Arg296His | |
| NM_001278499.1:c.887G>A (ADORA2A) | NP_001265428.1:p.Arg296His | |
| NM_001278500.1:c.887G>A (ADORA2A) | NP_001265429.1:p.Arg296His | |
| NR_028483.2:n.1270+855C>T (ADORA2A-AS1) | ||
| NR_028484.2:n.833+855C>T (ADORA2A-AS1) | ||
| NR_103543.1:n.740G>A (ADORA2A) | ||
| NR_103544.1:n.720G>A (ADORA2A) | ||
| NR_103546.1:n.5066G>A (SPECC1L-ADORA2A) | ||
| NR_028484.3:n.833+855C>T (ADORA2A-AS1) | ||
| NM_000675.6:c.887G>A (ADORA2A) MANE Select | NP_000666.2:p.Arg296His | |
| NM_001278499.2:c.887G>A (ADORA2A) | NP_001265428.1:p.Arg296His | |
| NR_103543.2:n.703G>A (ADORA2A) | ||
| NR_103544.2:n.683G>A (ADORA2A) | ||
| NM_001278497.2:c.887G>A (ADORA2A) | NP_001265426.1:p.Arg296His | |
| NM_001278498.2:c.887G>A (ADORA2A) | NP_001265427.1:p.Arg296His | |
| NM_001278500.2:c.887G>A (ADORA2A) | NP_001265429.1:p.Arg296His |