gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00220402 (EAS)
Genomes Max Group AF
0.00119055 (EAS)
Exomes Max Group AF
0.00223558 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.18518980A>T , CM000672.2:g.18518980A>T | GRCh38 |
| NC_000010.10:g.18807909A>T , CM000672.1:g.18807909A>T | GRCh37 |
| NC_000010.9:g.18847915A>T | NCBI36 |
| NG_016195.1:g.383304A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377315.6:c.800+12A>T (CACNB2) | ENSP00000366532.4:n.800+12A>T | |
| ENST00000377319.9:c.665+12A>T (CACNB2) | ENSP00000366536.3:n.665+12A>T | |
| ENST00000645287.2:c.788+12A>T (CACNB2) | ENSP00000496203.1:n.788+12A>T | |
| ENST00000282343.13:c.860+12A>T (CACNB2) | ENSP00000282343.8:n.860+12A>T | |
| ENST00000324631.13:c.944+12A>T (CACNB2) MANE Select | ENSP00000320025.8:n.944+12A>T | |
| ENST00000377315.5:c.800+12A>T (CACNB2) | ENSP00000366532.4:n.800+12A>T | |
| ENST00000377319.8:c.665+12A>T (CACNB2) | ENSP00000366536.3:n.665+12A>T | |
| ENST00000377329.10:c.782+12A>T (CACNB2) MANE Plus Clinical | ENSP00000366546.4:n.782+12A>T | |
| ENST00000377331.8:c.665+12A>T (CACNB2) | ENSP00000366548.4:n.665+12A>T | |
| ENST00000643096.2:c.746+12A>T (CACNB2) | ENSP00000494209.2:n.746+12A>T | |
| ENST00000643330.1:n.1031+12A>T (CACNB2) | ||
| ENST00000644004.1:c.*85+12A>T (CACNB2) | ENSP00000495509.1:n.*85+12A>T | |
| ENST00000645287.1:c.788+12A>T (CACNB2) | ENSP00000496203.1:n.788+12A>T | |
| ENST00000647168.2:c.*85+12A>T (CACNB2) | ENSP00000495854.2:n.*85+12A>T | |
| ENST00000650685.1:c.686+12A>T (CACNB2) | ENSP00000498460.1:n.686+12A>T | |
| ENST00000651330.1:c.*218+12A>T (CACNB2) | ENSP00000498457.1:n.*218+12A>T | |
| ENST00000651468.1:c.501+12A>T (CACNB2) | ENSP00000498352.1:n.501+12A>T | |
| ENST00000651928.1:c.*183+12A>T (CACNB2) | ENSP00000499177.1:n.*183+12A>T | |
| ENST00000652391.1:c.764+12A>T (CACNB2) | ENSP00000498938.1:n.764+12A>T | |
| ENST00000652478.1:c.800+12A>T (CACNB2) | ENSP00000498812.1:n.800+12A>T | |
| ENST00000282343.12:c.860+12A>T (CACNB2) | ENSP00000282343.8:n.860+12A>T | |
| ENST00000324631.11:c.944+12A>T (CACNB2) | ENSP00000320025.7:n.944+12A>T | |
| ENST00000352115.10:c.872+12A>T (CACNB2) | ENSP00000344474.6:n.872+12A>T | |
| ENST00000377315.4:c.800+12A>T (CACNB2) | ENSP00000366532.4:n.800+12A>T | |
| ENST00000377319.7:c.665+12A>T (CACNB2) | ENSP00000366536.3:n.665+12A>T | |
| ENST00000377328.5:c.457-17121A>T (CACNB2) | ENSP00000366545.1:n.457-17121A>T | |
| ENST00000377329.8:c.782+12A>T (CACNB2) | ENSP00000366546.4:n.782+12A>T | |
| ENST00000377331.6:c.788+12A>T (CACNB2) | ENSP00000366548.2:n.788+12A>T | |
| ENST00000396576.6:c.779+12A>T (CACNB2) | ENSP00000379821.2:n.779+12A>T | |
| ENST00000612134.4:c.648+12A>T (CACNB2) | ENSP00000480563.1:n.648+12A>T | |
| ENST00000612743.1:c.35-20284A>T (CACNB2) | ENSP00000478676.1:n.35-20284A>T | |
| ENST00000615785.4:c.292-17121A>T (CACNB2) | ENSP00000480260.1:n.292-17121A>T | |
| ENST00000617363.4:c.707+12A>T (CACNB2) | ENSP00000479756.1:n.707+12A>T | |
| NM_000724.3:c.779+12A>T (CACNB2) | NP_000715.2:n.779+12A>T | |
| NM_001167945.1:c.746+12A>T (CACNB2) | NP_001161417.1:n.746+12A>T | |
| NM_201570.2:c.800+12A>T (CACNB2) | NP_963864.1:n.800+12A>T | |
| NM_201571.3:c.860+12A>T (CACNB2) | NP_963865.2:n.860+12A>T | |
| NM_201572.3:c.788+12A>T (CACNB2) | NP_963866.2:n.788+12A>T | |
| NM_201590.2:c.782+12A>T (CACNB2) | NP_963884.2:n.782+12A>T | |
| NM_201593.2:c.830+12A>T (CACNB2) | NP_963887.2:n.830+12A>T | |
| NM_201596.2:c.944+12A>T (CACNB2) | NP_963890.2:n.944+12A>T | |
| NM_201597.2:c.872+12A>T (CACNB2) | NP_963891.1:n.872+12A>T | |
| XM_005252588.2:c.686+12A>T (CACNB2) | XP_005252645.1:n.686+12A>T | |
| XM_005252591.2:c.104+12A>T (CACNB2) | XP_005252648.1:n.104+12A>T | |
| XM_006717502.2:c.764+12A>T (CACNB2) | XP_006717565.1:n.764+12A>T | |
| XM_011519659.1:c.710+12A>T (CACNB2) | XP_011517961.1:n.710+12A>T | |
| XM_011519660.1:c.665+12A>T (CACNB2) | XP_011517962.1:n.665+12A>T | |
| XR_930717.1:n.73-5320T>A | ||
| XR_930718.1:n.1034-5320T>A | ||
| NM_001330060.1:c.665+12A>T (CACNB2) | NP_001316989.1:n.665+12A>T | |
| XM_005252588.4:c.686+12A>T (CACNB2) | XP_005252645.1:n.686+12A>T | |
| XM_005252591.3:c.104+12A>T (CACNB2) | XP_005252648.1:n.104+12A>T | |
| XM_006717502.3:c.764+12A>T (CACNB2) | XP_006717565.1:n.764+12A>T | |
| XM_011519659.2:c.710+12A>T (CACNB2) | XP_011517961.1:n.710+12A>T | |
| XM_017016625.1:c.104+12A>T (CACNB2) | XP_016872114.1:n.104+12A>T | |
| XR_001747060.1:n.2424-5320T>A (NSUN6) | ||
| XR_001747198.1:n.1069+12A>T (CACNB2) | ||
| NM_000724.4:c.779+12A>T (CACNB2) | NP_000715.2:n.779+12A>T | |
| NM_001167945.2:c.746+12A>T (CACNB2) | NP_001161417.1:n.746+12A>T | |
| NM_001330060.2:c.665+12A>T (CACNB2) | NP_001316989.1:n.665+12A>T | |
| NM_201570.3:c.800+12A>T (CACNB2) | NP_963864.1:n.800+12A>T | |
| NM_201571.4:c.860+12A>T (CACNB2) | NP_963865.2:n.860+12A>T | |
| NM_201572.4:c.788+12A>T (CACNB2) | NP_963866.2:n.788+12A>T | |
| NM_201590.3:c.782+12A>T (CACNB2) MANE Plus Clinical | NP_963884.2:n.782+12A>T | |
| NM_201593.3:c.830+12A>T (CACNB2) | NP_963887.2:n.830+12A>T | |
| NM_201596.3:c.944+12A>T (CACNB2) MANE Select | NP_963890.2:n.944+12A>T | |
| NM_201597.3:c.872+12A>T (CACNB2) | NP_963891.1:n.872+12A>T |