Revel Score:
ENST00000324631 (MANE Select)
0.675
ENST00000352115
0.675
ENST00000377328
0.675
ENST00000282343
0.675
ENST00000377331
0.675
ENST00000396576
0.675
ENST00000377319
0.675
ENST00000377329 (MANE Plus Clinical)
0.675
ENST00000377315
0.675
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000183 (NFE)
Exomes Max Group AF
0.00000194 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.18538188C>G , CM000672.2:g.18538188C>G | GRCh38 |
| NC_000010.10:g.18827117C>G , CM000672.1:g.18827117C>G | GRCh37 |
| NC_000010.9:g.18867123C>G | NCBI36 |
| NG_016195.1:g.402512C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377315.6:c.1167C>G (CACNB2) | ENSP00000366532.4:p.Phe389Leu | |
| ENST00000377319.9:c.1032C>G (CACNB2) | ENSP00000366536.3:p.Phe344Leu | |
| ENST00000645287.2:c.1155C>G (CACNB2) | ENSP00000496203.1:p.Phe385Leu | |
| ENST00000282343.13:c.1227C>G (CACNB2) | ENSP00000282343.8:p.Phe409Leu | |
| ENST00000324631.13:c.1311C>G (CACNB2) MANE Select | ENSP00000320025.8:p.Phe437Leu | |
| ENST00000377315.5:c.1167C>G (CACNB2) | ENSP00000366532.4:p.Phe389Leu | |
| ENST00000377319.8:c.1032C>G (CACNB2) | ENSP00000366536.3:p.Phe344Leu | |
| ENST00000377329.10:c.1149C>G (CACNB2) MANE Plus Clinical | ENSP00000366546.4:p.Phe383Leu | |
| ENST00000377331.8:c.936C>G (CACNB2) | ENSP00000366548.4:p.Phe312Leu | |
| ENST00000643096.2:c.1113C>G (CACNB2) | ENSP00000494209.2:p.Phe371Leu | |
| ENST00000645287.1:c.1155C>G (CACNB2) | ENSP00000496203.1:p.Phe385Leu | |
| ENST00000647168.2:c.*452C>G (CACNB2) | ENSP00000495854.2:n.*452C>G | |
| ENST00000650685.1:c.1053C>G (CACNB2) | ENSP00000498460.1:p.Phe351Leu | |
| ENST00000651330.1:c.*585C>G (CACNB2) | ENSP00000498457.1:n.*585C>G | |
| ENST00000651468.1:c.868C>G (CACNB2) | ENSP00000498352.1:n.868C>G | |
| ENST00000651928.1:c.*550C>G (CACNB2) | ENSP00000499177.1:n.*550C>G | |
| ENST00000652391.1:c.1131C>G (CACNB2) | ENSP00000498938.1:p.Phe377Leu | |
| ENST00000652478.1:c.*411C>G (CACNB2) | ENSP00000498812.1:n.*411C>G | |
| ENST00000282343.12:c.1227C>G (CACNB2) | ENSP00000282343.8:p.Phe409Leu | |
| ENST00000324631.11:c.1311C>G (CACNB2) | ENSP00000320025.7:p.Phe437Leu | |
| ENST00000352115.10:c.1239C>G (CACNB2) | ENSP00000344474.6:p.Phe413Leu | |
| ENST00000377315.4:c.1167C>G (CACNB2) | ENSP00000366532.4:p.Phe389Leu | |
| ENST00000377319.7:c.1032C>G (CACNB2) | ENSP00000366536.3:p.Phe344Leu | |
| ENST00000377328.5:c.561C>G (CACNB2) | ENSP00000366545.1:p.Phe187Leu | |
| ENST00000377329.8:c.1149C>G (CACNB2) | ENSP00000366546.4:p.Phe383Leu | |
| ENST00000377331.6:c.1155C>G (CACNB2) | ENSP00000366548.2:p.Phe385Leu | |
| ENST00000396576.6:c.1146C>G (CACNB2) | ENSP00000379821.2:p.Phe382Leu | |
| ENST00000612134.4:c.1015C>G (CACNB2) | ENSP00000480563.1:n.1015C>G | |
| ENST00000612743.1:c.35-1076C>G (CACNB2) | ENSP00000478676.1:n.35-1076C>G | |
| ENST00000615785.4:c.396C>G (CACNB2) | ENSP00000480260.1:p.Phe132Leu | |
| ENST00000617363.4:c.1074C>G (CACNB2) | ENSP00000479756.1:p.Phe358Leu | |
| NM_000724.3:c.1146C>G (CACNB2) | NP_000715.2:p.Phe382Leu | |
| NM_001167945.1:c.1113C>G (CACNB2) | NP_001161417.1:p.Phe371Leu | |
| NM_201570.2:c.1167C>G (CACNB2) | NP_963864.1:p.Phe389Leu | |
| NM_201571.3:c.1227C>G (CACNB2) | NP_963865.2:p.Phe409Leu | |
| NM_201572.3:c.1155C>G (CACNB2) | NP_963866.2:p.Phe385Leu | |
| NM_201590.2:c.1149C>G (CACNB2) | NP_963884.2:p.Phe383Leu | |
| NM_201593.2:c.1197C>G (CACNB2) | NP_963887.2:p.Phe399Leu | |
| NM_201596.2:c.1311C>G (CACNB2) | NP_963890.2:p.Phe437Leu | |
| NM_201597.2:c.1239C>G (CACNB2) | NP_963891.1:p.Phe413Leu | |
| XM_005252588.2:c.1053C>G (CACNB2) | XP_005252645.1:p.Phe351Leu | |
| XM_005252591.2:c.471C>G (CACNB2) | XP_005252648.1:p.Phe157Leu | |
| XM_006717502.2:c.1131C>G (CACNB2) | XP_006717565.1:p.Phe377Leu | |
| XM_011519659.1:c.1077C>G (CACNB2) | XP_011517961.1:p.Phe359Leu | |
| XM_011519660.1:c.1032C>G (CACNB2) | XP_011517962.1:p.Phe344Leu | |
| XR_930717.1:n.72+1006G>C | ||
| NM_001330060.1:c.1032C>G (CACNB2) | NP_001316989.1:p.Phe344Leu | |
| XM_005252588.4:c.1053C>G (CACNB2) | XP_005252645.1:p.Phe351Leu | |
| XM_005252591.3:c.471C>G (CACNB2) | XP_005252648.1:p.Phe157Leu | |
| XM_006717502.3:c.1131C>G (CACNB2) | XP_006717565.1:p.Phe377Leu | |
| XM_011519659.2:c.1077C>G (CACNB2) | XP_011517961.1:p.Phe359Leu | |
| XM_017016625.1:c.471C>G (CACNB2) | XP_016872114.1:p.Phe157Leu | |
| XR_001747060.1:n.2423+3881G>C (NSUN6) | ||
| XR_001747198.1:n.1436C>G (CACNB2) | ||
| NM_000724.4:c.1146C>G (CACNB2) | NP_000715.2:p.Phe382Leu | |
| NM_001167945.2:c.1113C>G (CACNB2) | NP_001161417.1:p.Phe371Leu | |
| NM_001330060.2:c.1032C>G (CACNB2) | NP_001316989.1:p.Phe344Leu | |
| NM_201570.3:c.1167C>G (CACNB2) | NP_963864.1:p.Phe389Leu | |
| NM_201571.4:c.1227C>G (CACNB2) | NP_963865.2:p.Phe409Leu | |
| NM_201572.4:c.1155C>G (CACNB2) | NP_963866.2:p.Phe385Leu | |
| NM_201590.3:c.1149C>G (CACNB2) MANE Plus Clinical | NP_963884.2:p.Phe383Leu | |
| NM_201593.3:c.1197C>G (CACNB2) | NP_963887.2:p.Phe399Leu | |
| NM_201596.3:c.1311C>G (CACNB2) MANE Select | NP_963890.2:p.Phe437Leu | |
| NM_201597.3:c.1239C>G (CACNB2) | NP_963891.1:p.Phe413Leu |