ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.18536082A>T , CM000672.2:g.18536082A>T | GRCh38 |
| NC_000010.10:g.18825011A>T , CM000672.1:g.18825011A>T | GRCh37 |
| NC_000010.9:g.18865017A>T | NCBI36 |
| NG_016195.1:g.400406A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377315.6:c.1063-19A>T (CACNB2) | ENSP00000366532.4:n.1063-19A>T | |
| ENST00000377319.9:c.928-19A>T (CACNB2) | ENSP00000366536.3:n.928-19A>T | |
| ENST00000645287.2:c.1051-19A>T (CACNB2) | ENSP00000496203.1:n.1051-19A>T | |
| ENST00000282343.13:c.1123-19A>T (CACNB2) | ENSP00000282343.8:n.1123-19A>T | |
| ENST00000324631.13:c.1207-19A>T (CACNB2) MANE Select | ENSP00000320025.8:n.1207-19A>T | |
| ENST00000377315.5:c.1063-19A>T (CACNB2) | ENSP00000366532.4:n.1063-19A>T | |
| ENST00000377319.8:c.928-19A>T (CACNB2) | ENSP00000366536.3:n.928-19A>T | |
| ENST00000377329.10:c.1045-19A>T (CACNB2) MANE Plus Clinical | ENSP00000366546.4:n.1045-19A>T | |
| ENST00000377331.8:c.927+1855A>T (CACNB2) | ENSP00000366548.4:n.927+1855A>T | |
| ENST00000643096.2:c.1009-19A>T (CACNB2) | ENSP00000494209.2:n.1009-19A>T | |
| ENST00000645287.1:c.1051-19A>T (CACNB2) | ENSP00000496203.1:n.1051-19A>T | |
| ENST00000647168.2:c.*348-19A>T (CACNB2) | ENSP00000495854.2:n.*348-19A>T | |
| ENST00000650685.1:c.949-19A>T (CACNB2) | ENSP00000498460.1:n.949-19A>T | |
| ENST00000651330.1:c.*481-19A>T (CACNB2) | ENSP00000498457.1:n.*481-19A>T | |
| ENST00000651468.1:c.764-19A>T (CACNB2) | ENSP00000498352.1:n.764-19A>T | |
| ENST00000651928.1:c.*446-19A>T (CACNB2) | ENSP00000499177.1:n.*446-19A>T | |
| ENST00000652391.1:c.1027-19A>T (CACNB2) | ENSP00000498938.1:n.1027-19A>T | |
| ENST00000652478.1:c.*307-19A>T (CACNB2) | ENSP00000498812.1:n.*307-19A>T | |
| ENST00000282343.12:c.1123-19A>T (CACNB2) | ENSP00000282343.8:n.1123-19A>T | |
| ENST00000324631.11:c.1207-19A>T (CACNB2) | ENSP00000320025.7:n.1207-19A>T | |
| ENST00000352115.10:c.1135-19A>T (CACNB2) | ENSP00000344474.6:n.1135-19A>T | |
| ENST00000377315.4:c.1063-19A>T (CACNB2) | ENSP00000366532.4:n.1063-19A>T | |
| ENST00000377319.7:c.928-19A>T (CACNB2) | ENSP00000366536.3:n.928-19A>T | |
| ENST00000377328.5:c.457-19A>T (CACNB2) | ENSP00000366545.1:n.457-19A>T | |
| ENST00000377329.8:c.1045-19A>T (CACNB2) | ENSP00000366546.4:n.1045-19A>T | |
| ENST00000377331.6:c.1051-19A>T (CACNB2) | ENSP00000366548.2:n.1051-19A>T | |
| ENST00000396576.6:c.1042-19A>T (CACNB2) | ENSP00000379821.2:n.1042-19A>T | |
| ENST00000612134.4:c.911-19A>T (CACNB2) | ENSP00000480563.1:n.911-19A>T | |
| ENST00000612743.1:c.35-3182A>T (CACNB2) | ENSP00000478676.1:n.35-3182A>T | |
| ENST00000615785.4:c.292-19A>T (CACNB2) | ENSP00000480260.1:n.292-19A>T | |
| ENST00000617363.4:c.970-19A>T (CACNB2) | ENSP00000479756.1:n.970-19A>T | |
| NM_000724.3:c.1042-19A>T (CACNB2) | NP_000715.2:n.1042-19A>T | |
| NM_001167945.1:c.1009-19A>T (CACNB2) | NP_001161417.1:n.1009-19A>T | |
| NM_201570.2:c.1063-19A>T (CACNB2) | NP_963864.1:n.1063-19A>T | |
| NM_201571.3:c.1123-19A>T (CACNB2) | NP_963865.2:n.1123-19A>T | |
| NM_201572.3:c.1051-19A>T (CACNB2) | NP_963866.2:n.1051-19A>T | |
| NM_201590.2:c.1045-19A>T (CACNB2) | NP_963884.2:n.1045-19A>T | |
| NM_201593.2:c.1093-19A>T (CACNB2) | NP_963887.2:n.1093-19A>T | |
| NM_201596.2:c.1207-19A>T (CACNB2) | NP_963890.2:n.1207-19A>T | |
| NM_201597.2:c.1135-19A>T (CACNB2) | NP_963891.1:n.1135-19A>T | |
| XM_005252588.2:c.949-19A>T (CACNB2) | XP_005252645.1:n.949-19A>T | |
| XM_005252591.2:c.367-19A>T (CACNB2) | XP_005252648.1:n.367-19A>T | |
| XM_006717502.2:c.1027-19A>T (CACNB2) | XP_006717565.1:n.1027-19A>T | |
| XM_011519659.1:c.973-19A>T (CACNB2) | XP_011517961.1:n.973-19A>T | |
| XM_011519660.1:c.928-19A>T (CACNB2) | XP_011517962.1:n.928-19A>T | |
| XR_930717.1:n.72+3112T>A | ||
| NM_001330060.1:c.928-19A>T (CACNB2) | NP_001316989.1:n.928-19A>T | |
| XM_005252588.4:c.949-19A>T (CACNB2) | XP_005252645.1:n.949-19A>T | |
| XM_005252591.3:c.367-19A>T (CACNB2) | XP_005252648.1:n.367-19A>T | |
| XM_006717502.3:c.1027-19A>T (CACNB2) | XP_006717565.1:n.1027-19A>T | |
| XM_011519659.2:c.973-19A>T (CACNB2) | XP_011517961.1:n.973-19A>T | |
| XM_017016625.1:c.367-19A>T (CACNB2) | XP_016872114.1:n.367-19A>T | |
| XR_001747060.1:n.2423+5987T>A (NSUN6) | ||
| XR_001747198.1:n.1332-19A>T (CACNB2) | ||
| NM_000724.4:c.1042-19A>T (CACNB2) | NP_000715.2:n.1042-19A>T | |
| NM_001167945.2:c.1009-19A>T (CACNB2) | NP_001161417.1:n.1009-19A>T | |
| NM_001330060.2:c.928-19A>T (CACNB2) | NP_001316989.1:n.928-19A>T | |
| NM_201570.3:c.1063-19A>T (CACNB2) | NP_963864.1:n.1063-19A>T | |
| NM_201571.4:c.1123-19A>T (CACNB2) | NP_963865.2:n.1123-19A>T | |
| NM_201572.4:c.1051-19A>T (CACNB2) | NP_963866.2:n.1051-19A>T | |
| NM_201590.3:c.1045-19A>T (CACNB2) MANE Plus Clinical | NP_963884.2:n.1045-19A>T | |
| NM_201593.3:c.1093-19A>T (CACNB2) | NP_963887.2:n.1093-19A>T | |
| NM_201596.3:c.1207-19A>T (CACNB2) MANE Select | NP_963890.2:n.1207-19A>T | |
| NM_201597.3:c.1135-19A>T (CACNB2) | NP_963891.1:n.1135-19A>T |