Linked Data
ClinVar Variation Id:
9547
ClinVar RCV Id:
RCV000010155
dbSNP Id:
rs121917812
gnomAD v4:
10-18539345-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.18539345C>T , CM000672.2:g.18539345C>T | GRCh38 |
| NC_000010.10:g.18828274C>T , CM000672.1:g.18828274C>T | GRCh37 |
| NC_000010.9:g.18868280C>T | NCBI36 |
| NG_016195.1:g.403669C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000377315.6:c.1460C>T (CACNB2) | ENSP00000366532.4:p.Ser487Leu | |
| ENST00000377319.9:c.1325C>T (CACNB2) | ENSP00000366536.3:p.Ser442Leu | |
| ENST00000645287.2:c.1448C>T (CACNB2) | ENSP00000496203.1:p.Ser483Leu | |
| ENST00000282343.13:c.1520C>T (CACNB2) | ENSP00000282343.8:p.Ser507Leu | |
| ENST00000324631.13:c.1604C>T (CACNB2) MANE Select | ENSP00000320025.8:p.Ser535Leu | |
| ENST00000377315.5:c.1460C>T (CACNB2) | ENSP00000366532.4:p.Ser487Leu | |
| ENST00000377319.8:c.1325C>T (CACNB2) | ENSP00000366536.3:p.Ser442Leu | |
| ENST00000377329.10:c.1442C>T (CACNB2) MANE Plus Clinical | ENSP00000366546.4:p.Ser481Leu | |
| ENST00000377331.8:c.1229C>T (CACNB2) | ENSP00000366548.4:p.Ser410Leu | |
| ENST00000643096.2:c.1406C>T (CACNB2) | ENSP00000494209.2:p.Ser469Leu | |
| ENST00000645287.1:c.1448C>T (CACNB2) | ENSP00000496203.1:p.Ser483Leu | |
| ENST00000647168.2:c.*745C>T (CACNB2) | ENSP00000495854.2:n.*745C>T | |
| ENST00000650685.1:c.1346C>T (CACNB2) | ENSP00000498460.1:p.Ser449Leu | |
| ENST00000651330.1:c.*878C>T (CACNB2) | ENSP00000498457.1:n.*878C>T | |
| ENST00000651468.1:c.1161C>T (CACNB2) | ENSP00000498352.1:n.1161C>T | |
| ENST00000651928.1:c.*843C>T (CACNB2) | ENSP00000499177.1:n.*843C>T | |
| ENST00000652391.1:c.1424C>T (CACNB2) | ENSP00000498938.1:p.Ser475Leu | |
| ENST00000652478.1:c.*704C>T (CACNB2) | ENSP00000498812.1:n.*704C>T | |
| ENST00000282343.12:c.1520C>T (CACNB2) | ENSP00000282343.8:p.Ser507Leu | |
| ENST00000324631.11:c.1604C>T (CACNB2) | ENSP00000320025.7:p.Ser535Leu | |
| ENST00000352115.10:c.1532C>T (CACNB2) | ENSP00000344474.6:p.Ser511Leu | |
| ENST00000377315.4:c.1460C>T (CACNB2) | ENSP00000366532.4:p.Ser487Leu | |
| ENST00000377319.7:c.1325C>T (CACNB2) | ENSP00000366536.3:p.Ser442Leu | |
| ENST00000377328.5:c.854C>T (CACNB2) | ENSP00000366545.1:p.Ser285Leu | |
| ENST00000377329.8:c.1442C>T (CACNB2) | ENSP00000366546.4:p.Ser481Leu | |
| ENST00000377331.6:c.1448C>T (CACNB2) | ENSP00000366548.2:p.Ser483Leu | |
| ENST00000396576.6:c.1439C>T (CACNB2) | ENSP00000379821.2:p.Ser480Leu | |
| ENST00000612134.4:c.1308C>T (CACNB2) | ENSP00000480563.1:n.1308C>T | |
| ENST00000612743.1:c.116C>T (CACNB2) | ENSP00000478676.1:p.Ser39Leu | |
| ENST00000615785.4:c.689C>T (CACNB2) | ENSP00000480260.1:p.Ser230Leu | |
| ENST00000617363.4:c.1367C>T (CACNB2) | ENSP00000479756.1:p.Ser456Leu | |
| NM_000724.3:c.1439C>T (CACNB2) | NP_000715.2:p.Ser480Leu | |
| NM_001167945.1:c.1406C>T (CACNB2) | NP_001161417.1:p.Ser469Leu | |
| NM_201570.2:c.1460C>T (CACNB2) | NP_963864.1:p.Ser487Leu | |
| NM_201571.3:c.1520C>T (CACNB2) | NP_963865.2:p.Ser507Leu | |
| NM_201572.3:c.1448C>T (CACNB2) | NP_963866.2:p.Ser483Leu | |
| NM_201590.2:c.1442C>T (CACNB2) | NP_963884.2:p.Ser481Leu | |
| NM_201593.2:c.1490C>T (CACNB2) | NP_963887.2:p.Ser497Leu | |
| NM_201596.2:c.1604C>T (CACNB2) | NP_963890.2:p.Ser535Leu | |
| NM_201597.2:c.1532C>T (CACNB2) | NP_963891.1:p.Ser511Leu | |
| XM_005252588.2:c.1346C>T (CACNB2) | XP_005252645.1:p.Ser449Leu | |
| XM_005252591.2:c.764C>T (CACNB2) | XP_005252648.1:p.Ser255Leu | |
| XM_006717502.2:c.1424C>T (CACNB2) | XP_006717565.1:p.Ser475Leu | |
| XM_011519659.1:c.1370C>T (CACNB2) | XP_011517961.1:p.Ser457Leu | |
| XM_011519660.1:c.1325C>T (CACNB2) | XP_011517962.1:p.Ser442Leu | |
| NM_001330060.1:c.1325C>T (CACNB2) | NP_001316989.1:p.Ser442Leu | |
| XM_005252588.4:c.1346C>T (CACNB2) | XP_005252645.1:p.Ser449Leu | |
| XM_005252591.3:c.764C>T (CACNB2) | XP_005252648.1:p.Ser255Leu | |
| XM_006717502.3:c.1424C>T (CACNB2) | XP_006717565.1:p.Ser475Leu | |
| XM_011519659.2:c.1370C>T (CACNB2) | XP_011517961.1:p.Ser457Leu | |
| XM_017016625.1:c.764C>T (CACNB2) | XP_016872114.1:p.Ser255Leu | |
| XR_001747060.1:n.2423+2724G>A (NSUN6) | ||
| XR_001747198.1:n.1729C>T (CACNB2) | ||
| NM_000724.4:c.1439C>T (CACNB2) | NP_000715.2:p.Ser480Leu | |
| NM_001167945.2:c.1406C>T (CACNB2) | NP_001161417.1:p.Ser469Leu | |
| NM_001330060.2:c.1325C>T (CACNB2) | NP_001316989.1:p.Ser442Leu | |
| NM_201570.3:c.1460C>T (CACNB2) | NP_963864.1:p.Ser487Leu | |
| NM_201571.4:c.1520C>T (CACNB2) | NP_963865.2:p.Ser507Leu | |
| NM_201572.4:c.1448C>T (CACNB2) | NP_963866.2:p.Ser483Leu | |
| NM_201590.3:c.1442C>T (CACNB2) MANE Plus Clinical | NP_963884.2:p.Ser481Leu | |
| NM_201593.3:c.1490C>T (CACNB2) | NP_963887.2:p.Ser497Leu | |
| NM_201596.3:c.1604C>T (CACNB2) MANE Select | NP_963890.2:p.Ser535Leu | |
| NM_201597.3:c.1532C>T (CACNB2) | NP_963891.1:p.Ser511Leu |