Linked Data
ClinVar Variation Id:
1368112
ClinVar RCV Id:
RCV001874334
dbSNP Id:
rs773534767
ExAC:
10:18828388 A / C
gnomAD v2:
10-18828388-A-C
gnomAD v4:
10-18539459-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.18539459A>C , CM000672.2:g.18539459A>C | GRCh38 |
| NC_000010.10:g.18828388A>C , CM000672.1:g.18828388A>C | GRCh37 |
| NC_000010.9:g.18868394A>C | NCBI36 |
| NG_016195.1:g.403783A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377315.6:c.1574A>C (CACNB2) | ENSP00000366532.4:p.Asp525Ala | |
| ENST00000377319.9:c.1439A>C (CACNB2) | ENSP00000366536.3:p.Asp480Ala | |
| ENST00000645287.2:c.1562A>C (CACNB2) | ENSP00000496203.1:p.Asp521Ala | |
| ENST00000282343.13:c.1634A>C (CACNB2) | ENSP00000282343.8:p.Asp545Ala | |
| ENST00000324631.13:c.1718A>C (CACNB2) MANE Select | ENSP00000320025.8:p.Asp573Ala | |
| ENST00000377315.5:c.1574A>C (CACNB2) | ENSP00000366532.4:p.Asp525Ala | |
| ENST00000377319.8:c.1439A>C (CACNB2) | ENSP00000366536.3:p.Asp480Ala | |
| ENST00000377329.10:c.1556A>C (CACNB2) MANE Plus Clinical | ENSP00000366546.4:p.Asp519Ala | |
| ENST00000377331.8:c.1343A>C (CACNB2) | ENSP00000366548.4:p.Asp448Ala | |
| ENST00000643096.2:c.1520A>C (CACNB2) | ENSP00000494209.2:p.Asp507Ala | |
| ENST00000645287.1:c.1562A>C (CACNB2) | ENSP00000496203.1:p.Asp521Ala | |
| ENST00000647168.2:c.*859A>C (CACNB2) | ENSP00000495854.2:n.*859A>C | |
| ENST00000650685.1:c.1460A>C (CACNB2) | ENSP00000498460.1:p.Asp487Ala | |
| ENST00000651330.1:c.*992A>C (CACNB2) | ENSP00000498457.1:n.*992A>C | |
| ENST00000651468.1:c.1275A>C (CACNB2) | ENSP00000498352.1:n.1275A>C | |
| ENST00000651928.1:c.*957A>C (CACNB2) | ENSP00000499177.1:n.*957A>C | |
| ENST00000652391.1:c.1538A>C (CACNB2) | ENSP00000498938.1:p.Asp513Ala | |
| ENST00000652478.1:c.*818A>C (CACNB2) | ENSP00000498812.1:n.*818A>C | |
| ENST00000282343.12:c.1634A>C (CACNB2) | ENSP00000282343.8:p.Asp545Ala | |
| ENST00000324631.11:c.1718A>C (CACNB2) | ENSP00000320025.7:p.Asp573Ala | |
| ENST00000352115.10:c.1646A>C (CACNB2) | ENSP00000344474.6:p.Asp549Ala | |
| ENST00000377315.4:c.1574A>C (CACNB2) | ENSP00000366532.4:p.Asp525Ala | |
| ENST00000377319.7:c.1439A>C (CACNB2) | ENSP00000366536.3:p.Asp480Ala | |
| ENST00000377328.5:c.968A>C (CACNB2) | ENSP00000366545.1:p.Asp323Ala | |
| ENST00000377329.8:c.1556A>C (CACNB2) | ENSP00000366546.4:p.Asp519Ala | |
| ENST00000377331.6:c.1562A>C (CACNB2) | ENSP00000366548.2:p.Asp521Ala | |
| ENST00000396576.6:c.1553A>C (CACNB2) | ENSP00000379821.2:p.Asp518Ala | |
| ENST00000612134.4:c.1422A>C (CACNB2) | ENSP00000480563.1:n.1422A>C | |
| ENST00000612743.1:c.230A>C (CACNB2) | ENSP00000478676.1:p.Asp77Ala | |
| ENST00000615785.4:c.803A>C (CACNB2) | ENSP00000480260.1:p.Asp268Ala | |
| ENST00000617363.4:c.1481A>C (CACNB2) | ENSP00000479756.1:p.Asp494Ala | |
| NM_000724.3:c.1553A>C (CACNB2) | NP_000715.2:p.Asp518Ala | |
| NM_001167945.1:c.1520A>C (CACNB2) | NP_001161417.1:p.Asp507Ala | |
| NM_201570.2:c.1574A>C (CACNB2) | NP_963864.1:p.Asp525Ala | |
| NM_201571.3:c.1634A>C (CACNB2) | NP_963865.2:p.Asp545Ala | |
| NM_201572.3:c.1562A>C (CACNB2) | NP_963866.2:p.Asp521Ala | |
| NM_201590.2:c.1556A>C (CACNB2) | NP_963884.2:p.Asp519Ala | |
| NM_201593.2:c.1604A>C (CACNB2) | NP_963887.2:p.Asp535Ala | |
| NM_201596.2:c.1718A>C (CACNB2) | NP_963890.2:p.Asp573Ala | |
| NM_201597.2:c.1646A>C (CACNB2) | NP_963891.1:p.Asp549Ala | |
| XM_005252588.2:c.1460A>C (CACNB2) | XP_005252645.1:p.Asp487Ala | |
| XM_005252591.2:c.878A>C (CACNB2) | XP_005252648.1:p.Asp293Ala | |
| XM_006717502.2:c.1538A>C (CACNB2) | XP_006717565.1:p.Asp513Ala | |
| XM_011519659.1:c.1484A>C (CACNB2) | XP_011517961.1:p.Asp495Ala | |
| XM_011519660.1:c.1439A>C (CACNB2) | XP_011517962.1:p.Asp480Ala | |
| NM_001330060.1:c.1439A>C (CACNB2) | NP_001316989.1:p.Asp480Ala | |
| XM_005252588.4:c.1460A>C (CACNB2) | XP_005252645.1:p.Asp487Ala | |
| XM_005252591.3:c.878A>C (CACNB2) | XP_005252648.1:p.Asp293Ala | |
| XM_006717502.3:c.1538A>C (CACNB2) | XP_006717565.1:p.Asp513Ala | |
| XM_011519659.2:c.1484A>C (CACNB2) | XP_011517961.1:p.Asp495Ala | |
| XM_017016625.1:c.878A>C (CACNB2) | XP_016872114.1:p.Asp293Ala | |
| XR_001747060.1:n.2423+2610T>G (NSUN6) | ||
| XR_001747198.1:n.1843A>C (CACNB2) | ||
| NM_000724.4:c.1553A>C (CACNB2) | NP_000715.2:p.Asp518Ala | |
| NM_001167945.2:c.1520A>C (CACNB2) | NP_001161417.1:p.Asp507Ala | |
| NM_001330060.2:c.1439A>C (CACNB2) | NP_001316989.1:p.Asp480Ala | |
| NM_201570.3:c.1574A>C (CACNB2) | NP_963864.1:p.Asp525Ala | |
| NM_201571.4:c.1634A>C (CACNB2) | NP_963865.2:p.Asp545Ala | |
| NM_201572.4:c.1562A>C (CACNB2) | NP_963866.2:p.Asp521Ala | |
| NM_201590.3:c.1556A>C (CACNB2) MANE Plus Clinical | NP_963884.2:p.Asp519Ala | |
| NM_201593.3:c.1604A>C (CACNB2) | NP_963887.2:p.Asp535Ala | |
| NM_201596.3:c.1718A>C (CACNB2) MANE Select | NP_963890.2:p.Asp573Ala | |
| NM_201597.3:c.1646A>C (CACNB2) | NP_963891.1:p.Asp549Ala |