SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.18539468_18539498delinsATGACCACGTGGACCACTATGCCTCACACCG , CM000672.2:g.18539468_18539498delinsATGACCACGTGGACCACTATGCCTCACACCG | GRCh38 |
| NC_000010.10:g.18828397_18828427delinsATGACCACGTGGACCACTATGCCTCACACCG , CM000672.1:g.18828397_18828427delinsATGACCACGTGGACCACTATGCCTCACACCG | GRCh37 |
| NC_000010.9:g.18868403_18868433delinsATGACCACGTGGACCACTATGCCTCACACCG | NCBI36 |
| NG_016195.1:g.403792_403822delinsATGACCACGTGGACCACTATGCCTCACACCG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377315.6:c.1583_1613delinsATGACCACGTGGACCACTATGCCTCACACCG (CACNB2) | ENSP00000366532.4:p.His528= | |
| ENST00000377319.9:c.1448_1478delinsATGACCACGTGGACCACTATGCCTCACACCG (CACNB2) | ENSP00000366536.3:p.His483= | |
| ENST00000645287.2:c.1571_1601delinsATGACCACGTGGACCACTATGCCTCACACCG (CACNB2) | ENSP00000496203.1:p.His524= | |
| ENST00000282343.13:c.1643_1673delinsATGACCACGTGGACCACTATGCCTCACACCG (CACNB2) | ENSP00000282343.8:p.His548= | |
| ENST00000324631.13:c.1727_1757delinsATGACCACGTGGACCACTATGCCTCACACCG (CACNB2) MANE Select | ENSP00000320025.8:p.His576= | |
| ENST00000377315.5:c.1583_1613delinsATGACCACGTGGACCACTATGCCTCACACCG (CACNB2) | ENSP00000366532.4:p.His528= | |
| ENST00000377319.8:c.1448_1478delinsATGACCACGTGGACCACTATGCCTCACACCG (CACNB2) | ENSP00000366536.3:p.His483= | |
| ENST00000377329.10:c.1565_1595delinsATGACCACGTGGACCACTATGCCTCACACCG (CACNB2) MANE Plus Clinical | ENSP00000366546.4:p.His522= | |
| ENST00000377331.8:c.1352_1382delinsATGACCACGTGGACCACTATGCCTCACACCG (CACNB2) | ENSP00000366548.4:p.His451= | |
| ENST00000643096.2:c.1529_1559delinsATGACCACGTGGACCACTATGCCTCACACCG (CACNB2) | ENSP00000494209.2:p.His510= | |
| ENST00000645287.1:c.1571_1601delinsATGACCACGTGGACCACTATGCCTCACACCG (CACNB2) | ENSP00000496203.1:p.His524= | |
| ENST00000647168.2:c.*868_*898delinsATGACCACGTGGACCACTATGCCTCACACCG (CACNB2) | ENSP00000495854.2:n.*868_*898delinsATGACCACGTGGACCACTATGCCTCA... | |
| ENST00000650685.1:c.1469_1499delinsATGACCACGTGGACCACTATGCCTCACACCG (CACNB2) | ENSP00000498460.1:p.His490= | |
| ENST00000651330.1:c.*1001_*1031delinsATGACCACGTGGACCACTATGCCTCACACCG (CACNB2) | ENSP00000498457.1:n.*1001_*1031delinsATGACCACGTGGACCACTATGCCT... | |
| ENST00000651468.1:c.1284_1314delinsATGACCACGTGGACCACTATGCCTCACACCG (CACNB2) | ENSP00000498352.1:n.1284_1314delinsATGACCACGTGGACCACTATGCCTCA... | |
| ENST00000651928.1:c.*966_*996delinsATGACCACGTGGACCACTATGCCTCACACCG (CACNB2) | ENSP00000499177.1:n.*966_*996delinsATGACCACGTGGACCACTATGCCTCA... | |
| ENST00000652391.1:c.1547_1577delinsATGACCACGTGGACCACTATGCCTCACACCG (CACNB2) | ENSP00000498938.1:p.His516= | |
| ENST00000652478.1:c.*827_*857delinsATGACCACGTGGACCACTATGCCTCACACCG (CACNB2) | ENSP00000498812.1:n.*827_*857delinsATGACCACGTGGACCACTATGCCTCA... | |
| ENST00000282343.12:c.1643_1673delinsATGACCACGTGGACCACTATGCCTCACACCG (CACNB2) | ENSP00000282343.8:p.His548= | |
| ENST00000324631.11:c.1727_1757delinsATGACCACGTGGACCACTATGCCTCACACCG (CACNB2) | ENSP00000320025.7:p.His576= | |
| ENST00000352115.10:c.1655_1685delinsATGACCACGTGGACCACTATGCCTCACACCG (CACNB2) | ENSP00000344474.6:p.His552= | |
| ENST00000377315.4:c.1583_1613delinsATGACCACGTGGACCACTATGCCTCACACCG (CACNB2) | ENSP00000366532.4:p.His528= | |
| ENST00000377319.7:c.1448_1478delinsATGACCACGTGGACCACTATGCCTCACACCG (CACNB2) | ENSP00000366536.3:p.His483= | |
| ENST00000377328.5:c.977_1007delinsATGACCACGTGGACCACTATGCCTCACACCG (CACNB2) | ENSP00000366545.1:p.His326= | |
| ENST00000377329.8:c.1565_1595delinsATGACCACGTGGACCACTATGCCTCACACCG (CACNB2) | ENSP00000366546.4:p.His522= | |
| ENST00000377331.6:c.1571_1601delinsATGACCACGTGGACCACTATGCCTCACACCG (CACNB2) | ENSP00000366548.2:p.His524= | |
| ENST00000396576.6:c.1562_1592delinsATGACCACGTGGACCACTATGCCTCACACCG (CACNB2) | ENSP00000379821.2:p.His521= | |
| ENST00000612134.4:c.1431_1461delinsATGACCACGTGGACCACTATGCCTCACACCG (CACNB2) | ENSP00000480563.1:n.1431_1461delinsATGACCACGTGGACCACTATGCCTCA... | |
| ENST00000612743.1:c.239_269delinsATGACCACGTGGACCACTATGCCTCACACCG (CACNB2) | ENSP00000478676.1:p.His80= | |
| ENST00000615785.4:c.812_842delinsATGACCACGTGGACCACTATGCCTCACACCG (CACNB2) | ENSP00000480260.1:p.His271= | |
| ENST00000617363.4:c.1490_1520delinsATGACCACGTGGACCACTATGCCTCACACCG (CACNB2) | ENSP00000479756.1:p.His497= | |
| NM_000724.3:c.1562_1592delinsATGACCACGTGGACCACTATGCCTCACACCG (CACNB2) | NP_000715.2:p.His521= | |
| NM_001167945.1:c.1529_1559delinsATGACCACGTGGACCACTATGCCTCACACCG (CACNB2) | NP_001161417.1:p.His510= | |
| NM_201570.2:c.1583_1613delinsATGACCACGTGGACCACTATGCCTCACACCG (CACNB2) | NP_963864.1:p.His528= | |
| NM_201571.3:c.1643_1673delinsATGACCACGTGGACCACTATGCCTCACACCG (CACNB2) | NP_963865.2:p.His548= | |
| NM_201572.3:c.1571_1601delinsATGACCACGTGGACCACTATGCCTCACACCG (CACNB2) | NP_963866.2:p.His524= | |
| NM_201590.2:c.1565_1595delinsATGACCACGTGGACCACTATGCCTCACACCG (CACNB2) | NP_963884.2:p.His522= | |
| NM_201593.2:c.1613_1643delinsATGACCACGTGGACCACTATGCCTCACACCG (CACNB2) | NP_963887.2:p.His538= | |
| NM_201596.2:c.1727_1757delinsATGACCACGTGGACCACTATGCCTCACACCG (CACNB2) | NP_963890.2:p.His576= | |
| NM_201597.2:c.1655_1685delinsATGACCACGTGGACCACTATGCCTCACACCG (CACNB2) | NP_963891.1:p.His552= | |
| XM_005252588.2:c.1469_1499delinsATGACCACGTGGACCACTATGCCTCACACCG (CACNB2) | XP_005252645.1:p.His490= | |
| XM_005252591.2:c.887_917delinsATGACCACGTGGACCACTATGCCTCACACCG (CACNB2) | XP_005252648.1:p.His296= | |
| XM_006717502.2:c.1547_1577delinsATGACCACGTGGACCACTATGCCTCACACCG (CACNB2) | XP_006717565.1:p.His516= | |
| XM_011519659.1:c.1493_1523delinsATGACCACGTGGACCACTATGCCTCACACCG (CACNB2) | XP_011517961.1:p.His498= | |
| XM_011519660.1:c.1448_1478delinsATGACCACGTGGACCACTATGCCTCACACCG (CACNB2) | XP_011517962.1:p.His483= | |
| NM_001330060.1:c.1448_1478delinsATGACCACGTGGACCACTATGCCTCACACCG (CACNB2) | NP_001316989.1:p.His483= | |
| XM_005252588.4:c.1469_1499delinsATGACCACGTGGACCACTATGCCTCACACCG (CACNB2) | XP_005252645.1:p.His490= | |
| XM_005252591.3:c.887_917delinsATGACCACGTGGACCACTATGCCTCACACCG (CACNB2) | XP_005252648.1:p.His296= | |
| XM_006717502.3:c.1547_1577delinsATGACCACGTGGACCACTATGCCTCACACCG (CACNB2) | XP_006717565.1:p.His516= | |
| XM_011519659.2:c.1493_1523delinsATGACCACGTGGACCACTATGCCTCACACCG (CACNB2) | XP_011517961.1:p.His498= | |
| XM_017016625.1:c.887_917delinsATGACCACGTGGACCACTATGCCTCACACCG (CACNB2) | XP_016872114.1:p.His296= | |
| XR_001747060.1:n.2423+2571_2423+2601delinsCGGTGTGAGGCATAGTGGTCCACGTGGTCAT (NSUN6) | ||
| XR_001747198.1:n.1852_1882delinsATGACCACGTGGACCACTATGCCTCACACCG (CACNB2) | ||
| NM_000724.4:c.1562_1592delinsATGACCACGTGGACCACTATGCCTCACACCG (CACNB2) | NP_000715.2:p.His521= | |
| NM_001167945.2:c.1529_1559delinsATGACCACGTGGACCACTATGCCTCACACCG (CACNB2) | NP_001161417.1:p.His510= | |
| NM_001330060.2:c.1448_1478delinsATGACCACGTGGACCACTATGCCTCACACCG (CACNB2) | NP_001316989.1:p.His483= | |
| NM_201570.3:c.1583_1613delinsATGACCACGTGGACCACTATGCCTCACACCG (CACNB2) | NP_963864.1:p.His528= | |
| NM_201571.4:c.1643_1673delinsATGACCACGTGGACCACTATGCCTCACACCG (CACNB2) | NP_963865.2:p.His548= | |
| NM_201572.4:c.1571_1601delinsATGACCACGTGGACCACTATGCCTCACACCG (CACNB2) | NP_963866.2:p.His524= | |
| NM_201590.3:c.1565_1595delinsATGACCACGTGGACCACTATGCCTCACACCG (CACNB2) MANE Plus Clinical | NP_963884.2:p.His522= | |
| NM_201593.3:c.1613_1643delinsATGACCACGTGGACCACTATGCCTCACACCG (CACNB2) | NP_963887.2:p.His538= | |
| NM_201596.3:c.1727_1757delinsATGACCACGTGGACCACTATGCCTCACACCG (CACNB2) MANE Select | NP_963890.2:p.His576= | |
| NM_201597.3:c.1655_1685delinsATGACCACGTGGACCACTATGCCTCACACCG (CACNB2) | NP_963891.1:p.His552= |