Linked Data
ClinVar Variation Id:
523804
ClinVar RCV Id:
RCV000627273
dbSNP Id:
rs377026307
ExAC:
15:43924466 G / A
gnomAD v2:
15-43924466-G-A
gnomAD v3:
15-43632268-G-A
gnomAD v4:
15-43632268-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.43632268G>A , CM000677.2:g.43632268G>A | GRCh38 |
| NC_000015.9:g.43924466G>A , CM000677.1:g.43924466G>A | GRCh37 |
| NC_000015.8:g.41711758G>A | NCBI36 |
| NG_009283.1:g.21574C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321596.6:c.1486C>T (CATSPER2) | ENSP00000321463.5:p.Arg496Ter | |
| ENST00000381761.6:c.1504C>T (CATSPER2) | ENSP00000371180.1:p.Arg502Ter | |
| ENST00000396879.8:c.1492C>T (CATSPER2) MANE Select | ENSP00000380088.3:p.Arg498Ter | |
| ENST00000469461.6:n.4421C>T (CATSPER2) | ||
| ENST00000643290.1:c.16C>T | ENSP00000495476.1:p.Arg6Ter | |
| ENST00000321596.5:c.1492C>T (CATSPER2) | ENSP00000321463.4:p.Arg498Ter | |
| ENST00000381761.5:c.1504C>T (CATSPER2) | ENSP00000371180.1:p.Arg502Ter | |
| ENST00000396879.5:c.1486C>T (CATSPER2) | ENSP00000380088.1:p.Arg496Ter | |
| ENST00000419262.1:c.393C>T (CATSPER2) | ||
| ENST00000433380.5:c.1274C>T (CATSPER2) | ENSP00000389746.1:n.1274C>T | |
| ENST00000450810.5:c.117C>T (CATSPER2) | ||
| ENST00000469461.5:n.4831C>T (CATSPER2) | ||
| NM_001282309.1:c.1486C>T (CATSPER2) | NP_001269238.1:p.Arg496Ter | |
| NM_001282310.1:c.1504C>T (CATSPER2) | NP_001269239.1:p.Arg502Ter | |
| NM_054020.3:c.1486C>T (CATSPER2) | NP_473361.1:p.Arg496Ter | |
| NM_172095.2:c.1492C>T (CATSPER2) | NP_742093.1:p.Arg498Ter | |
| NR_110319.1:n.1276C>T (CATSPER2) | ||
| XM_011521204.1:c.1486C>T (CATSPER2) | XP_011519506.1:p.Arg496Ter | |
| XM_011521277.1:c.442-13498C>T (STRC) | XP_011519579.1:n.442-13498C>T | |
| NM_001282309.2:c.1486C>T (CATSPER2) | NP_001269238.1:p.Arg496Ter | |
| NM_001282310.2:c.1504C>T (CATSPER2) | NP_001269239.1:p.Arg502Ter | |
| NM_172095.3:c.1492C>T (CATSPER2) | NP_742093.1:p.Arg498Ter | |
| NR_146339.1:n.5042C>T | ||
| NM_001282309.3:c.1486C>T (CATSPER2) | NP_001269238.1:p.Arg496Ter | |
| NM_172095.4:c.1492C>T (CATSPER2) MANE Select | NP_742093.1:p.Arg498Ter |