ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00077449 (MID)
Genomes Max Group AF
0.00014831 (AFR)
Exomes Max Group AF
0.00069028 (MID)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.18534161T>C , CM000672.2:g.18534161T>C | GRCh38 |
| NC_000010.10:g.18823090T>C , CM000672.1:g.18823090T>C | GRCh37 |
| NC_000010.9:g.18863096T>C | NCBI36 |
| NG_016195.1:g.398485T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377315.6:c.996T>C (CACNB2) | ENSP00000366532.4:p.His332= | |
| ENST00000377319.9:c.861T>C (CACNB2) | ENSP00000366536.3:p.His287= | |
| ENST00000645287.2:c.984T>C (CACNB2) | ENSP00000496203.1:p.His328= | |
| ENST00000282343.13:c.1056T>C (CACNB2) | ENSP00000282343.8:p.His352= | |
| ENST00000324631.13:c.1140T>C (CACNB2) MANE Select | ENSP00000320025.8:p.His380= | |
| ENST00000377315.5:c.996T>C (CACNB2) | ENSP00000366532.4:p.His332= | |
| ENST00000377319.8:c.861T>C (CACNB2) | ENSP00000366536.3:p.His287= | |
| ENST00000377329.10:c.978T>C (CACNB2) MANE Plus Clinical | ENSP00000366546.4:p.His326= | |
| ENST00000377331.8:c.861T>C (CACNB2) | ENSP00000366548.4:p.His287= | |
| ENST00000643096.2:c.942T>C (CACNB2) | ENSP00000494209.2:p.His314= | |
| ENST00000645287.1:c.984T>C (CACNB2) | ENSP00000496203.1:p.His328= | |
| ENST00000647168.2:c.*281T>C (CACNB2) | ENSP00000495854.2:n.*281T>C | |
| ENST00000650685.1:c.882T>C (CACNB2) | ENSP00000498460.1:p.His294= | |
| ENST00000651330.1:c.*414T>C (CACNB2) | ENSP00000498457.1:n.*414T>C | |
| ENST00000651468.1:c.697T>C (CACNB2) | ENSP00000498352.1:n.697T>C | |
| ENST00000651928.1:c.*379T>C (CACNB2) | ENSP00000499177.1:n.*379T>C | |
| ENST00000652391.1:c.960T>C (CACNB2) | ENSP00000498938.1:p.His320= | |
| ENST00000652478.1:c.*240T>C (CACNB2) | ENSP00000498812.1:n.*240T>C | |
| ENST00000282343.12:c.1056T>C (CACNB2) | ENSP00000282343.8:p.His352= | |
| ENST00000324631.11:c.1140T>C (CACNB2) | ENSP00000320025.7:p.His380= | |
| ENST00000352115.10:c.1068T>C (CACNB2) | ENSP00000344474.6:p.His356= | |
| ENST00000377315.4:c.996T>C (CACNB2) | ENSP00000366532.4:p.His332= | |
| ENST00000377319.7:c.861T>C (CACNB2) | ENSP00000366536.3:p.His287= | |
| ENST00000377328.5:c.457-1940T>C (CACNB2) | ENSP00000366545.1:n.457-1940T>C | |
| ENST00000377329.8:c.978T>C (CACNB2) | ENSP00000366546.4:p.His326= | |
| ENST00000377331.6:c.984T>C (CACNB2) | ENSP00000366548.2:p.His328= | |
| ENST00000396576.6:c.975T>C (CACNB2) | ENSP00000379821.2:p.His325= | |
| ENST00000612134.4:c.844T>C (CACNB2) | ENSP00000480563.1:n.844T>C | |
| ENST00000612743.1:c.35-5103T>C (CACNB2) | ENSP00000478676.1:n.35-5103T>C | |
| ENST00000615785.4:c.292-1940T>C (CACNB2) | ENSP00000480260.1:n.292-1940T>C | |
| ENST00000617363.4:c.903T>C (CACNB2) | ENSP00000479756.1:p.His301= | |
| NM_000724.3:c.975T>C (CACNB2) | NP_000715.2:p.His325= | |
| NM_001167945.1:c.942T>C (CACNB2) | NP_001161417.1:p.His314= | |
| NM_201570.2:c.996T>C (CACNB2) | NP_963864.1:p.His332= | |
| NM_201571.3:c.1056T>C (CACNB2) | NP_963865.2:p.His352= | |
| NM_201572.3:c.984T>C (CACNB2) | NP_963866.2:p.His328= | |
| NM_201590.2:c.978T>C (CACNB2) | NP_963884.2:p.His326= | |
| NM_201593.2:c.1026T>C (CACNB2) | NP_963887.2:p.His342= | |
| NM_201596.2:c.1140T>C (CACNB2) | NP_963890.2:p.His380= | |
| NM_201597.2:c.1068T>C (CACNB2) | NP_963891.1:p.His356= | |
| XM_005252588.2:c.882T>C (CACNB2) | XP_005252645.1:p.His294= | |
| XM_005252591.2:c.300T>C (CACNB2) | XP_005252648.1:p.His100= | |
| XM_006717502.2:c.960T>C (CACNB2) | XP_006717565.1:p.His320= | |
| XM_011519659.1:c.906T>C (CACNB2) | XP_011517961.1:p.His302= | |
| XM_011519660.1:c.861T>C (CACNB2) | XP_011517962.1:p.His287= | |
| XR_930717.1:n.72+5033A>G | ||
| NM_001330060.1:c.861T>C (CACNB2) | NP_001316989.1:p.His287= | |
| XM_005252588.4:c.882T>C (CACNB2) | XP_005252645.1:p.His294= | |
| XM_005252591.3:c.300T>C (CACNB2) | XP_005252648.1:p.His100= | |
| XM_006717502.3:c.960T>C (CACNB2) | XP_006717565.1:p.His320= | |
| XM_011519659.2:c.906T>C (CACNB2) | XP_011517961.1:p.His302= | |
| XM_017016625.1:c.300T>C (CACNB2) | XP_016872114.1:p.His100= | |
| XR_001747060.1:n.2423+7908A>G (NSUN6) | ||
| XR_001747198.1:n.1265T>C (CACNB2) | ||
| NM_000724.4:c.975T>C (CACNB2) | NP_000715.2:p.His325= | |
| NM_001167945.2:c.942T>C (CACNB2) | NP_001161417.1:p.His314= | |
| NM_001330060.2:c.861T>C (CACNB2) | NP_001316989.1:p.His287= | |
| NM_201570.3:c.996T>C (CACNB2) | NP_963864.1:p.His332= | |
| NM_201571.4:c.1056T>C (CACNB2) | NP_963865.2:p.His352= | |
| NM_201572.4:c.984T>C (CACNB2) | NP_963866.2:p.His328= | |
| NM_201590.3:c.978T>C (CACNB2) MANE Plus Clinical | NP_963884.2:p.His326= | |
| NM_201593.3:c.1026T>C (CACNB2) | NP_963887.2:p.His342= | |
| NM_201596.3:c.1140T>C (CACNB2) MANE Select | NP_963890.2:p.His380= | |
| NM_201597.3:c.1068T>C (CACNB2) | NP_963891.1:p.His356= |