Linked Data
dbSNP Id:
rs1564677473
gnomAD v2:
10-18828357-CGAGACTCTGCCTACGTA-C
gnomAD v3:
10-18539428-CGAGACTCTGCCTACGTA-C
gnomAD v4:
10-18539428-CGAGACTCTGCCTACGTA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.18539432_18539448del , CM000672.2:g.18539432_18539448del | GRCh38 |
| NC_000010.10:g.18828361_18828377del , CM000672.1:g.18828361_18828377del | GRCh37 |
| NC_000010.9:g.18868367_18868383del | NCBI36 |
| NG_016195.1:g.403756_403772del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377315.6:c.1547_1563del (CACNB2) | ENSP00000366532.4:p.Asp516AlafsTer8 | |
| ENST00000377319.9:c.1412_1428del (CACNB2) | ENSP00000366536.3:p.Asp471AlafsTer8 | |
| ENST00000645287.2:c.1535_1551del (CACNB2) | ENSP00000496203.1:p.Asp512AlafsTer8 | |
| ENST00000282343.13:c.1607_1623del (CACNB2) | ENSP00000282343.8:p.Asp536AlafsTer8 | |
| ENST00000324631.13:c.1691_1707del (CACNB2) MANE Select | ENSP00000320025.8:p.Asp564AlafsTer8 | |
| ENST00000377315.5:c.1547_1563del (CACNB2) | ENSP00000366532.4:p.Asp516AlafsTer8 | |
| ENST00000377319.8:c.1412_1428del (CACNB2) | ENSP00000366536.3:p.Asp471AlafsTer8 | |
| ENST00000377329.10:c.1529_1545del (CACNB2) MANE Plus Clinical | ENSP00000366546.4:p.Asp510AlafsTer8 | |
| ENST00000377331.8:c.1316_1332del (CACNB2) | ENSP00000366548.4:p.Asp439AlafsTer8 | |
| ENST00000643096.2:c.1493_1509del (CACNB2) | ENSP00000494209.2:p.Asp498AlafsTer8 | |
| ENST00000645287.1:c.1535_1551del (CACNB2) | ENSP00000496203.1:p.Asp512AlafsTer8 | |
| ENST00000647168.2:c.*832_*848del (CACNB2) | ENSP00000495854.2:n.*832_*848del | |
| ENST00000650685.1:c.1433_1449del (CACNB2) | ENSP00000498460.1:p.Asp478AlafsTer8 | |
| ENST00000651330.1:c.*965_*981del (CACNB2) | ENSP00000498457.1:n.*965_*981del | |
| ENST00000651468.1:c.1248_1264del (CACNB2) | ENSP00000498352.1:n.1248_1264del | |
| ENST00000651928.1:c.*930_*946del (CACNB2) | ENSP00000499177.1:n.*930_*946del | |
| ENST00000652391.1:c.1511_1527del (CACNB2) | ENSP00000498938.1:p.Asp504AlafsTer8 | |
| ENST00000652478.1:c.*791_*807del (CACNB2) | ENSP00000498812.1:n.*791_*807del | |
| ENST00000282343.12:c.1607_1623del (CACNB2) | ENSP00000282343.8:p.Asp536AlafsTer8 | |
| ENST00000324631.11:c.1691_1707del (CACNB2) | ENSP00000320025.7:p.Asp564AlafsTer8 | |
| ENST00000352115.10:c.1619_1635del (CACNB2) | ENSP00000344474.6:p.Asp540AlafsTer8 | |
| ENST00000377315.4:c.1547_1563del (CACNB2) | ENSP00000366532.4:p.Asp516AlafsTer8 | |
| ENST00000377319.7:c.1412_1428del (CACNB2) | ENSP00000366536.3:p.Asp471AlafsTer8 | |
| ENST00000377328.5:c.941_957del (CACNB2) | ENSP00000366545.1:p.Asp314AlafsTer8 | |
| ENST00000377329.8:c.1529_1545del (CACNB2) | ENSP00000366546.4:p.Asp510AlafsTer8 | |
| ENST00000377331.6:c.1535_1551del (CACNB2) | ENSP00000366548.2:p.Asp512AlafsTer8 | |
| ENST00000396576.6:c.1526_1542del (CACNB2) | ENSP00000379821.2:p.Asp509AlafsTer8 | |
| ENST00000612134.4:c.1395_1411del (CACNB2) | ENSP00000480563.1:n.1395_1411del | |
| ENST00000612743.1:c.203_219del (CACNB2) | ENSP00000478676.1:p.Asp68AlafsTer8 | |
| ENST00000615785.4:c.776_792del (CACNB2) | ENSP00000480260.1:p.Asp259AlafsTer8 | |
| ENST00000617363.4:c.1454_1470del (CACNB2) | ENSP00000479756.1:p.Asp485AlafsTer8 | |
| NM_000724.3:c.1526_1542del (CACNB2) | NP_000715.2:p.Asp509AlafsTer8 | |
| NM_001167945.1:c.1493_1509del (CACNB2) | NP_001161417.1:p.Asp498AlafsTer8 | |
| NM_201570.2:c.1547_1563del (CACNB2) | NP_963864.1:p.Asp516AlafsTer8 | |
| NM_201571.3:c.1607_1623del (CACNB2) | NP_963865.2:p.Asp536AlafsTer8 | |
| NM_201572.3:c.1535_1551del (CACNB2) | NP_963866.2:p.Asp512AlafsTer8 | |
| NM_201590.2:c.1529_1545del (CACNB2) | NP_963884.2:p.Asp510AlafsTer8 | |
| NM_201593.2:c.1577_1593del (CACNB2) | NP_963887.2:p.Asp526AlafsTer8 | |
| NM_201596.2:c.1691_1707del (CACNB2) | NP_963890.2:p.Asp564AlafsTer8 | |
| NM_201597.2:c.1619_1635del (CACNB2) | NP_963891.1:p.Asp540AlafsTer8 | |
| XM_005252588.2:c.1433_1449del (CACNB2) | XP_005252645.1:p.Asp478AlafsTer8 | |
| XM_005252591.2:c.851_867del (CACNB2) | XP_005252648.1:p.Asp284AlafsTer8 | |
| XM_006717502.2:c.1511_1527del (CACNB2) | XP_006717565.1:p.Asp504AlafsTer8 | |
| XM_011519659.1:c.1457_1473del (CACNB2) | XP_011517961.1:p.Asp486AlafsTer8 | |
| XM_011519660.1:c.1412_1428del (CACNB2) | XP_011517962.1:p.Asp471AlafsTer8 | |
| NM_001330060.1:c.1412_1428del (CACNB2) | NP_001316989.1:p.Asp471AlafsTer8 | |
| XM_005252588.4:c.1433_1449del (CACNB2) | XP_005252645.1:p.Asp478AlafsTer8 | |
| XM_005252591.3:c.851_867del (CACNB2) | XP_005252648.1:p.Asp284AlafsTer8 | |
| XM_006717502.3:c.1511_1527del (CACNB2) | XP_006717565.1:p.Asp504AlafsTer8 | |
| XM_011519659.2:c.1457_1473del (CACNB2) | XP_011517961.1:p.Asp486AlafsTer8 | |
| XM_017016625.1:c.851_867del (CACNB2) | XP_016872114.1:p.Asp284AlafsTer8 | |
| XR_001747060.1:n.2423+2624_2423+2640del (NSUN6) | ||
| XR_001747198.1:n.1816_1832del (CACNB2) | ||
| NM_000724.4:c.1526_1542del (CACNB2) | NP_000715.2:p.Asp509AlafsTer8 | |
| NM_001167945.2:c.1493_1509del (CACNB2) | NP_001161417.1:p.Asp498AlafsTer8 | |
| NM_001330060.2:c.1412_1428del (CACNB2) | NP_001316989.1:p.Asp471AlafsTer8 | |
| NM_201570.3:c.1547_1563del (CACNB2) | NP_963864.1:p.Asp516AlafsTer8 | |
| NM_201571.4:c.1607_1623del (CACNB2) | NP_963865.2:p.Asp536AlafsTer8 | |
| NM_201572.4:c.1535_1551del (CACNB2) | NP_963866.2:p.Asp512AlafsTer8 | |
| NM_201590.3:c.1529_1545del (CACNB2) MANE Plus Clinical | NP_963884.2:p.Asp510AlafsTer8 | |
| NM_201593.3:c.1577_1593del (CACNB2) | NP_963887.2:p.Asp526AlafsTer8 | |
| NM_201596.3:c.1691_1707del (CACNB2) MANE Select | NP_963890.2:p.Asp564AlafsTer8 | |
| NM_201597.3:c.1619_1635del (CACNB2) | NP_963891.1:p.Asp540AlafsTer8 |