ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00029489 (EAS)
Genomes Max Group AF
0.00015684 (EAS)
Exomes Max Group AF
0.00027281 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.18518332G>A , CM000672.2:g.18518332G>A | GRCh38 |
| NC_000010.10:g.18807261G>A , CM000672.1:g.18807261G>A | GRCh37 |
| NC_000010.9:g.18847267G>A | NCBI36 |
| NG_016195.1:g.382656G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377315.6:c.661-4G>A (CACNB2) | ENSP00000366532.4:n.661-4G>A | |
| ENST00000377319.9:c.526-4G>A (CACNB2) | ENSP00000366536.3:n.526-4G>A | |
| ENST00000645287.2:c.649-4G>A (CACNB2) | ENSP00000496203.1:n.649-4G>A | |
| ENST00000282343.13:c.721-4G>A (CACNB2) | ENSP00000282343.8:n.721-4G>A | |
| ENST00000324631.13:c.805-4G>A (CACNB2) MANE Select | ENSP00000320025.8:n.805-4G>A | |
| ENST00000377315.5:c.661-4G>A (CACNB2) | ENSP00000366532.4:n.661-4G>A | |
| ENST00000377319.8:c.526-4G>A (CACNB2) | ENSP00000366536.3:n.526-4G>A | |
| ENST00000377329.10:c.643-4G>A (CACNB2) MANE Plus Clinical | ENSP00000366546.4:n.643-4G>A | |
| ENST00000377331.8:c.526-4G>A (CACNB2) | ENSP00000366548.4:n.526-4G>A | |
| ENST00000643096.2:c.607-4G>A (CACNB2) | ENSP00000494209.2:n.607-4G>A | |
| ENST00000643330.1:n.892-4G>A (CACNB2) | ||
| ENST00000644004.1:c.669-4G>A (CACNB2) | ENSP00000495509.1:n.669-4G>A | |
| ENST00000645287.1:c.649-4G>A (CACNB2) | ENSP00000496203.1:n.649-4G>A | |
| ENST00000647168.2:c.609-4G>A (CACNB2) | ENSP00000495854.2:n.609-4G>A | |
| ENST00000650685.1:c.547-4G>A (CACNB2) | ENSP00000498460.1:n.547-4G>A | |
| ENST00000651330.1:c.*79-4G>A (CACNB2) | ENSP00000498457.1:n.*79-4G>A | |
| ENST00000651468.1:c.362-4G>A (CACNB2) | ENSP00000498352.1:n.362-4G>A | |
| ENST00000651928.1:c.*44-4G>A (CACNB2) | ENSP00000499177.1:n.*44-4G>A | |
| ENST00000652391.1:c.625-4G>A (CACNB2) | ENSP00000498938.1:n.625-4G>A | |
| ENST00000652478.1:c.661-4G>A (CACNB2) | ENSP00000498812.1:n.661-4G>A | |
| ENST00000282343.12:c.721-4G>A (CACNB2) | ENSP00000282343.8:n.721-4G>A | |
| ENST00000324631.11:c.805-4G>A (CACNB2) | ENSP00000320025.7:n.805-4G>A | |
| ENST00000352115.10:c.733-4G>A (CACNB2) | ENSP00000344474.6:n.733-4G>A | |
| ENST00000377315.4:c.661-4G>A (CACNB2) | ENSP00000366532.4:n.661-4G>A | |
| ENST00000377319.7:c.526-4G>A (CACNB2) | ENSP00000366536.3:n.526-4G>A | |
| ENST00000377328.5:c.457-17769G>A (CACNB2) | ENSP00000366545.1:n.457-17769G>A | |
| ENST00000377329.8:c.643-4G>A (CACNB2) | ENSP00000366546.4:n.643-4G>A | |
| ENST00000377331.6:c.649-4G>A (CACNB2) | ENSP00000366548.2:n.649-4G>A | |
| ENST00000396576.6:c.640-4G>A (CACNB2) | ENSP00000379821.2:n.640-4G>A | |
| ENST00000612134.4:c.509-4G>A (CACNB2) | ENSP00000480563.1:n.509-4G>A | |
| ENST00000612743.1:c.35-20932G>A (CACNB2) | ENSP00000478676.1:n.35-20932G>A | |
| ENST00000615785.4:c.292-17769G>A (CACNB2) | ENSP00000480260.1:n.292-17769G>A | |
| ENST00000617363.4:c.568-4G>A (CACNB2) | ENSP00000479756.1:n.568-4G>A | |
| NM_000724.3:c.640-4G>A (CACNB2) | NP_000715.2:n.640-4G>A | |
| NM_001167945.1:c.607-4G>A (CACNB2) | NP_001161417.1:n.607-4G>A | |
| NM_201570.2:c.661-4G>A (CACNB2) | NP_963864.1:n.661-4G>A | |
| NM_201571.3:c.721-4G>A (CACNB2) | NP_963865.2:n.721-4G>A | |
| NM_201572.3:c.649-4G>A (CACNB2) | NP_963866.2:n.649-4G>A | |
| NM_201590.2:c.643-4G>A (CACNB2) | NP_963884.2:n.643-4G>A | |
| NM_201593.2:c.691-4G>A (CACNB2) | NP_963887.2:n.691-4G>A | |
| NM_201596.2:c.805-4G>A (CACNB2) | NP_963890.2:n.805-4G>A | |
| NM_201597.2:c.733-4G>A (CACNB2) | NP_963891.1:n.733-4G>A | |
| XM_005252588.2:c.547-4G>A (CACNB2) | XP_005252645.1:n.547-4G>A | |
| XM_005252591.2:c.-36-4G>A (CACNB2) | XP_005252648.1:n.-36-4G>A | |
| XM_006717502.2:c.625-4G>A (CACNB2) | XP_006717565.1:n.625-4G>A | |
| XM_011519659.1:c.571-4G>A (CACNB2) | XP_011517961.1:n.571-4G>A | |
| XM_011519660.1:c.526-4G>A (CACNB2) | XP_011517962.1:n.526-4G>A | |
| XR_930717.1:n.73-4672C>T | ||
| XR_930718.1:n.1034-4672C>T | ||
| NM_001330060.1:c.526-4G>A (CACNB2) | NP_001316989.1:n.526-4G>A | |
| XM_005252588.4:c.547-4G>A (CACNB2) | XP_005252645.1:n.547-4G>A | |
| XM_005252591.3:c.-36-4G>A (CACNB2) | XP_005252648.1:n.-36-4G>A | |
| XM_006717502.3:c.625-4G>A (CACNB2) | XP_006717565.1:n.625-4G>A | |
| XM_011519659.2:c.571-4G>A (CACNB2) | XP_011517961.1:n.571-4G>A | |
| XM_017016625.1:c.-36-4G>A (CACNB2) | XP_016872114.1:n.-36-4G>A | |
| XR_001747060.1:n.2424-4672C>T (NSUN6) | ||
| XR_001747198.1:n.930-4G>A (CACNB2) | ||
| NM_000724.4:c.640-4G>A (CACNB2) | NP_000715.2:n.640-4G>A | |
| NM_001167945.2:c.607-4G>A (CACNB2) | NP_001161417.1:n.607-4G>A | |
| NM_001330060.2:c.526-4G>A (CACNB2) | NP_001316989.1:n.526-4G>A | |
| NM_201570.3:c.661-4G>A (CACNB2) | NP_963864.1:n.661-4G>A | |
| NM_201571.4:c.721-4G>A (CACNB2) | NP_963865.2:n.721-4G>A | |
| NM_201572.4:c.649-4G>A (CACNB2) | NP_963866.2:n.649-4G>A | |
| NM_201590.3:c.643-4G>A (CACNB2) MANE Plus Clinical | NP_963884.2:n.643-4G>A | |
| NM_201593.3:c.691-4G>A (CACNB2) | NP_963887.2:n.691-4G>A | |
| NM_201596.3:c.805-4G>A (CACNB2) MANE Select | NP_963890.2:n.805-4G>A | |
| NM_201597.3:c.733-4G>A (CACNB2) | NP_963891.1:n.733-4G>A |