UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.18539350C= , CM000672.2:g.18539350C= | GRCh38 |
| NC_000010.10:g.18828279C= , CM000672.1:g.18828279C= | GRCh37 |
| NC_000010.9:g.18868285C= | NCBI36 |
| NG_016195.1:g.403674C= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000377315.6:c.1465C= (CACNB2) | ENSP00000366532.4:p.Pro489= | |
| ENST00000377319.9:c.1330C= (CACNB2) | ENSP00000366536.3:p.Pro444= | |
| ENST00000645287.2:c.1453C= (CACNB2) | ENSP00000496203.1:p.Pro485= | |
| ENST00000282343.13:c.1525C= (CACNB2) | ENSP00000282343.8:p.Pro509= | |
| ENST00000324631.13:c.1609C= (CACNB2) MANE Select | ENSP00000320025.8:p.Pro537= | |
| ENST00000377315.5:c.1465C= (CACNB2) | ENSP00000366532.4:p.Pro489= | |
| ENST00000377319.8:c.1330C= (CACNB2) | ENSP00000366536.3:p.Pro444= | |
| ENST00000377329.10:c.1447C= (CACNB2) MANE Plus Clinical | ENSP00000366546.4:p.Pro483= | |
| ENST00000377331.8:c.1234C= (CACNB2) | ENSP00000366548.4:p.Pro412= | |
| ENST00000643096.2:c.1411C= (CACNB2) | ENSP00000494209.2:p.Pro471= | |
| ENST00000645287.1:c.1453C= (CACNB2) | ENSP00000496203.1:p.Pro485= | |
| ENST00000647168.2:c.*750C= (CACNB2) | ENSP00000495854.2:n.*750C= | |
| ENST00000650685.1:c.1351C= (CACNB2) | ENSP00000498460.1:p.Pro451= | |
| ENST00000651330.1:c.*883C= (CACNB2) | ENSP00000498457.1:n.*883C= | |
| ENST00000651468.1:c.1166C= (CACNB2) | ENSP00000498352.1:n.1166C= | |
| ENST00000651928.1:c.*848C= (CACNB2) | ENSP00000499177.1:n.*848C= | |
| ENST00000652391.1:c.1429C= (CACNB2) | ENSP00000498938.1:p.Pro477= | |
| ENST00000652478.1:c.*709C= (CACNB2) | ENSP00000498812.1:n.*709C= | |
| ENST00000282343.12:c.1525C= (CACNB2) | ENSP00000282343.8:p.Pro509= | |
| ENST00000324631.11:c.1609C= (CACNB2) | ENSP00000320025.7:p.Pro537= | |
| ENST00000352115.10:c.1537C= (CACNB2) | ENSP00000344474.6:p.Pro513= | |
| ENST00000377315.4:c.1465C= (CACNB2) | ENSP00000366532.4:p.Pro489= | |
| ENST00000377319.7:c.1330C= (CACNB2) | ENSP00000366536.3:p.Pro444= | |
| ENST00000377328.5:c.859C= (CACNB2) | ENSP00000366545.1:p.Pro287= | |
| ENST00000377329.8:c.1447C= (CACNB2) | ENSP00000366546.4:p.Pro483= | |
| ENST00000377331.6:c.1453C= (CACNB2) | ENSP00000366548.2:p.Pro485= | |
| ENST00000396576.6:c.1444C= (CACNB2) | ENSP00000379821.2:p.Pro482= | |
| ENST00000612134.4:c.1313C= (CACNB2) | ENSP00000480563.1:n.1313C= | |
| ENST00000612743.1:c.121C= (CACNB2) | ENSP00000478676.1:p.Pro41= | |
| ENST00000615785.4:c.694C= (CACNB2) | ENSP00000480260.1:p.Pro232= | |
| ENST00000617363.4:c.1372C= (CACNB2) | ENSP00000479756.1:p.Pro458= | |
| NM_000724.3:c.1444C= (CACNB2) | NP_000715.2:p.Pro482= | |
| NM_001167945.1:c.1411C= (CACNB2) | NP_001161417.1:p.Pro471= | |
| NM_201570.2:c.1465C= (CACNB2) | NP_963864.1:p.Pro489= | |
| NM_201571.3:c.1525C= (CACNB2) | NP_963865.2:p.Pro509= | |
| NM_201572.3:c.1453C= (CACNB2) | NP_963866.2:p.Pro485= | |
| NM_201590.2:c.1447C= (CACNB2) | NP_963884.2:p.Pro483= | |
| NM_201593.2:c.1495C= (CACNB2) | NP_963887.2:p.Pro499= | |
| NM_201596.2:c.1609C= (CACNB2) | NP_963890.2:p.Pro537= | |
| NM_201597.2:c.1537C= (CACNB2) | NP_963891.1:p.Pro513= | |
| XM_005252588.2:c.1351C= (CACNB2) | XP_005252645.1:p.Pro451= | |
| XM_005252591.2:c.769C= (CACNB2) | XP_005252648.1:p.Pro257= | |
| XM_006717502.2:c.1429C= (CACNB2) | XP_006717565.1:p.Pro477= | |
| XM_011519659.1:c.1375C= (CACNB2) | XP_011517961.1:p.Pro459= | |
| XM_011519660.1:c.1330C= (CACNB2) | XP_011517962.1:p.Pro444= | |
| NM_001330060.1:c.1330C= (CACNB2) | NP_001316989.1:p.Pro444= | |
| XM_005252588.4:c.1351C= (CACNB2) | XP_005252645.1:p.Pro451= | |
| XM_005252591.3:c.769C= (CACNB2) | XP_005252648.1:p.Pro257= | |
| XM_006717502.3:c.1429C= (CACNB2) | XP_006717565.1:p.Pro477= | |
| XM_011519659.2:c.1375C= (CACNB2) | XP_011517961.1:p.Pro459= | |
| XM_017016625.1:c.769C= (CACNB2) | XP_016872114.1:p.Pro257= | |
| XR_001747060.1:n.2423+2719G= (NSUN6) | ||
| XR_001747198.1:n.1734C= (CACNB2) | ||
| NM_000724.4:c.1444C= (CACNB2) | NP_000715.2:p.Pro482= | |
| NM_001167945.2:c.1411C= (CACNB2) | NP_001161417.1:p.Pro471= | |
| NM_001330060.2:c.1330C= (CACNB2) | NP_001316989.1:p.Pro444= | |
| NM_201570.3:c.1465C= (CACNB2) | NP_963864.1:p.Pro489= | |
| NM_201571.4:c.1525C= (CACNB2) | NP_963865.2:p.Pro509= | |
| NM_201572.4:c.1453C= (CACNB2) | NP_963866.2:p.Pro485= | |
| NM_201590.3:c.1447C= (CACNB2) MANE Plus Clinical | NP_963884.2:p.Pro483= | |
| NM_201593.3:c.1495C= (CACNB2) | NP_963887.2:p.Pro499= | |
| NM_201596.3:c.1609C= (CACNB2) MANE Select | NP_963890.2:p.Pro537= | |
| NM_201597.3:c.1537C= (CACNB2) | NP_963891.1:p.Pro513= |