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.18539357A= , CM000672.2:g.18539357A= | GRCh38 |
| NC_000010.10:g.18828286A= , CM000672.1:g.18828286A= | GRCh37 |
| NC_000010.9:g.18868292A= | NCBI36 |
| NG_016195.1:g.403681A= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000377315.6:c.1472A= (CACNB2) | ENSP00000366532.4:p.His491= | |
| ENST00000377319.9:c.1337A= (CACNB2) | ENSP00000366536.3:p.His446= | |
| ENST00000645287.2:c.1460A= (CACNB2) | ENSP00000496203.1:p.His487= | |
| ENST00000282343.13:c.1532A= (CACNB2) | ENSP00000282343.8:p.His511= | |
| ENST00000324631.13:c.1616A= (CACNB2) MANE Select | ENSP00000320025.8:p.His539= | |
| ENST00000377315.5:c.1472A= (CACNB2) | ENSP00000366532.4:p.His491= | |
| ENST00000377319.8:c.1337A= (CACNB2) | ENSP00000366536.3:p.His446= | |
| ENST00000377329.10:c.1454A= (CACNB2) MANE Plus Clinical | ENSP00000366546.4:p.His485= | |
| ENST00000377331.8:c.1241A= (CACNB2) | ENSP00000366548.4:p.His414= | |
| ENST00000643096.2:c.1418A= (CACNB2) | ENSP00000494209.2:p.His473= | |
| ENST00000645287.1:c.1460A= (CACNB2) | ENSP00000496203.1:p.His487= | |
| ENST00000647168.2:c.*757A= (CACNB2) | ENSP00000495854.2:n.*757A= | |
| ENST00000650685.1:c.1358A= (CACNB2) | ENSP00000498460.1:p.His453= | |
| ENST00000651330.1:c.*890A= (CACNB2) | ENSP00000498457.1:n.*890A= | |
| ENST00000651468.1:c.1173A= (CACNB2) | ENSP00000498352.1:n.1173A= | |
| ENST00000651928.1:c.*855A= (CACNB2) | ENSP00000499177.1:n.*855A= | |
| ENST00000652391.1:c.1436A= (CACNB2) | ENSP00000498938.1:p.His479= | |
| ENST00000652478.1:c.*716A= (CACNB2) | ENSP00000498812.1:n.*716A= | |
| ENST00000282343.12:c.1532A= (CACNB2) | ENSP00000282343.8:p.His511= | |
| ENST00000324631.11:c.1616A= (CACNB2) | ENSP00000320025.7:p.His539= | |
| ENST00000352115.10:c.1544A= (CACNB2) | ENSP00000344474.6:p.His515= | |
| ENST00000377315.4:c.1472A= (CACNB2) | ENSP00000366532.4:p.His491= | |
| ENST00000377319.7:c.1337A= (CACNB2) | ENSP00000366536.3:p.His446= | |
| ENST00000377328.5:c.866A= (CACNB2) | ENSP00000366545.1:p.His289= | |
| ENST00000377329.8:c.1454A= (CACNB2) | ENSP00000366546.4:p.His485= | |
| ENST00000377331.6:c.1460A= (CACNB2) | ENSP00000366548.2:p.His487= | |
| ENST00000396576.6:c.1451A= (CACNB2) | ENSP00000379821.2:p.His484= | |
| ENST00000612134.4:c.1320A= (CACNB2) | ENSP00000480563.1:n.1320A= | |
| ENST00000612743.1:c.128A= (CACNB2) | ENSP00000478676.1:p.His43= | |
| ENST00000615785.4:c.701A= (CACNB2) | ENSP00000480260.1:p.His234= | |
| ENST00000617363.4:c.1379A= (CACNB2) | ENSP00000479756.1:p.His460= | |
| NM_000724.3:c.1451A= (CACNB2) | NP_000715.2:p.His484= | |
| NM_001167945.1:c.1418A= (CACNB2) | NP_001161417.1:p.His473= | |
| NM_201570.2:c.1472A= (CACNB2) | NP_963864.1:p.His491= | |
| NM_201571.3:c.1532A= (CACNB2) | NP_963865.2:p.His511= | |
| NM_201572.3:c.1460A= (CACNB2) | NP_963866.2:p.His487= | |
| NM_201590.2:c.1454A= (CACNB2) | NP_963884.2:p.His485= | |
| NM_201593.2:c.1502A= (CACNB2) | NP_963887.2:p.His501= | |
| NM_201596.2:c.1616A= (CACNB2) | NP_963890.2:p.His539= | |
| NM_201597.2:c.1544A= (CACNB2) | NP_963891.1:p.His515= | |
| XM_005252588.2:c.1358A= (CACNB2) | XP_005252645.1:p.His453= | |
| XM_005252591.2:c.776A= (CACNB2) | XP_005252648.1:p.His259= | |
| XM_006717502.2:c.1436A= (CACNB2) | XP_006717565.1:p.His479= | |
| XM_011519659.1:c.1382A= (CACNB2) | XP_011517961.1:p.His461= | |
| XM_011519660.1:c.1337A= (CACNB2) | XP_011517962.1:p.His446= | |
| NM_001330060.1:c.1337A= (CACNB2) | NP_001316989.1:p.His446= | |
| XM_005252588.4:c.1358A= (CACNB2) | XP_005252645.1:p.His453= | |
| XM_005252591.3:c.776A= (CACNB2) | XP_005252648.1:p.His259= | |
| XM_006717502.3:c.1436A= (CACNB2) | XP_006717565.1:p.His479= | |
| XM_011519659.2:c.1382A= (CACNB2) | XP_011517961.1:p.His461= | |
| XM_017016625.1:c.776A= (CACNB2) | XP_016872114.1:p.His259= | |
| XR_001747060.1:n.2423+2712T= (NSUN6) | ||
| XR_001747198.1:n.1741A= (CACNB2) | ||
| NM_000724.4:c.1451A= (CACNB2) | NP_000715.2:p.His484= | |
| NM_001167945.2:c.1418A= (CACNB2) | NP_001161417.1:p.His473= | |
| NM_001330060.2:c.1337A= (CACNB2) | NP_001316989.1:p.His446= | |
| NM_201570.3:c.1472A= (CACNB2) | NP_963864.1:p.His491= | |
| NM_201571.4:c.1532A= (CACNB2) | NP_963865.2:p.His511= | |
| NM_201572.4:c.1460A= (CACNB2) | NP_963866.2:p.His487= | |
| NM_201590.3:c.1454A= (CACNB2) MANE Plus Clinical | NP_963884.2:p.His485= | |
| NM_201593.3:c.1502A= (CACNB2) | NP_963887.2:p.His501= | |
| NM_201596.3:c.1616A= (CACNB2) MANE Select | NP_963890.2:p.His539= | |
| NM_201597.3:c.1544A= (CACNB2) | NP_963891.1:p.His515= |