Linked Data
ClinVar Variation Id:
1216831
ClinVar RCV Id:
RCV001582160
dbSNP Id:
rs190482876
ExAC:
15:43924349 C / T
gnomAD v2:
15-43924349-C-T
gnomAD v3:
15-43632151-C-T
gnomAD v4:
15-43632151-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.43632151C>T , CM000677.2:g.43632151C>T | GRCh38 |
| NC_000015.9:g.43924349C>T , CM000677.1:g.43924349C>T | GRCh37 |
| NC_000015.8:g.41711641C>T | NCBI36 |
| NG_009283.1:g.21691G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321596.6:c.1555+48G>A (CATSPER2) | ENSP00000321463.5:n.1555+48G>A | |
| ENST00000381761.6:c.1573+48G>A (CATSPER2) | ENSP00000371180.1:n.1573+48G>A | |
| ENST00000396879.8:c.1561+48G>A (CATSPER2) MANE Select | ENSP00000380088.3:n.1561+48G>A | |
| ENST00000469461.6:n.4490+48G>A (CATSPER2) | ||
| ENST00000643290.1:c.85+48G>A | ENSP00000495476.1:n.85+48G>A | |
| ENST00000321596.5:c.1561+48G>A (CATSPER2) | ENSP00000321463.4:n.1561+48G>A | |
| ENST00000381761.5:c.1573+48G>A (CATSPER2) | ENSP00000371180.1:n.1573+48G>A | |
| ENST00000396879.5:c.1555+48G>A (CATSPER2) | ENSP00000380088.1:n.1555+48G>A | |
| ENST00000433380.5:c.1343+48G>A (CATSPER2) | ENSP00000389746.1:n.1343+48G>A | |
| ENST00000450810.5:c.186+48G>A (CATSPER2) | ||
| ENST00000469461.5:n.4900+48G>A (CATSPER2) | ||
| NM_001282309.1:c.1555+48G>A (CATSPER2) | NP_001269238.1:n.1555+48G>A | |
| NM_001282310.1:c.1573+48G>A (CATSPER2) | NP_001269239.1:n.1573+48G>A | |
| NM_054020.3:c.1555+48G>A (CATSPER2) | NP_473361.1:n.1555+48G>A | |
| NM_172095.2:c.1561+48G>A (CATSPER2) | NP_742093.1:n.1561+48G>A | |
| NR_110319.1:n.1345+48G>A (CATSPER2) | ||
| XM_011521204.1:c.1555+48G>A (CATSPER2) | XP_011519506.1:n.1555+48G>A | |
| XM_011521277.1:c.442-13381G>A (STRC) | XP_011519579.1:n.442-13381G>A | |
| NM_001282309.2:c.1555+48G>A (CATSPER2) | NP_001269238.1:n.1555+48G>A | |
| NM_001282310.2:c.1573+48G>A (CATSPER2) | NP_001269239.1:n.1573+48G>A | |
| NM_172095.3:c.1561+48G>A (CATSPER2) | NP_742093.1:n.1561+48G>A | |
| NR_146339.1:n.5111+48G>A | ||
| NM_001282309.3:c.1555+48G>A (CATSPER2) | NP_001269238.1:n.1555+48G>A | |
| NM_172095.4:c.1561+48G>A (CATSPER2) MANE Select | NP_742093.1:n.1561+48G>A |