gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.75279977 (EAS)
Genomes Max Group AF
0.75279977 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.178727615T>C , CM000663.2:g.178727615T>C | GRCh38 |
| NC_000001.10:g.178696750T>C , CM000663.1:g.178696750T>C | GRCh37 |
| NC_000001.9:g.176963373T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367634.7:c.-84+2196T>C (RALGPS2) | ENSP00000356606.2:n.-84+2196T>C | |
| ENST00000367635.8:c.-84+2196T>C (RALGPS2) MANE Select | ENSP00000356607.3:n.-84+2196T>C | |
| ENST00000324778.5:c.-84+2196T>C (RALGPS2) | ENSP00000313613.5:n.-84+2196T>C | |
| ENST00000367634.6:c.-84+2196T>C (RALGPS2) | ENSP00000356606.2:n.-84+2196T>C | |
| ENST00000367635.7:c.-84+2196T>C (RALGPS2) | ENSP00000356607.3:n.-84+2196T>C | |
| ENST00000495034.5:n.255+2196T>C (RALGPS2) | ||
| NM_001286247.1:c.-84+2196T>C (RALGPS2) | NP_001273176.1:n.-84+2196T>C | |
| NM_152663.4:c.-84+2196T>C (RALGPS2) | NP_689876.2:n.-84+2196T>C | |
| XM_006711410.2:c.-84+1410T>C (RALGPS2) | XP_006711473.1:n.-84+1410T>C | |
| XM_011509688.1:c.-84+2196T>C (RALGPS2) | XP_011507990.1:n.-84+2196T>C | |
| XM_006711410.3:c.-84+1410T>C (RALGPS2) | XP_006711473.1:n.-84+1410T>C | |
| XM_017001591.2:c.-557+2196T>C (RALGPS2) | XP_016857080.1:n.-557+2196T>C | |
| XR_002958385.1:n.2317A>G (RALGPS2-AS1) | ||
| NM_152663.5:c.-84+2196T>C (RALGPS2) MANE Select | NP_689876.2:n.-84+2196T>C | |
| NM_001286247.2:c.-84+2196T>C (RALGPS2) | NP_001273176.1:n.-84+2196T>C | |
| NM_001400042.1:c.-84+2196T>C (RALGPS2) | NP_001386971.1:n.-84+2196T>C | |
| NR_174383.1:n.176+2196T>C (RALGPS2) | ||
| NR_174384.1:n.176+2196T>C (RALGPS2) |