Linked Data
ClinVar Variation Id:
642210
ClinVar RCV Id:
RCV000795627
dbSNP Id:
rs1589778402
gnomAD v4:
10-18539404-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.18539404T>C , CM000672.2:g.18539404T>C | GRCh38 |
| NC_000010.10:g.18828333T>C , CM000672.1:g.18828333T>C | GRCh37 |
| NC_000010.9:g.18868339T>C | NCBI36 |
| NG_016195.1:g.403728T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377315.6:c.1519T>C (CACNB2) | ENSP00000366532.4:p.Phe507Leu | |
| ENST00000377319.9:c.1384T>C (CACNB2) | ENSP00000366536.3:p.Phe462Leu | |
| ENST00000645287.2:c.1507T>C (CACNB2) | ENSP00000496203.1:p.Phe503Leu | |
| ENST00000282343.13:c.1579T>C (CACNB2) | ENSP00000282343.8:p.Phe527Leu | |
| ENST00000324631.13:c.1663T>C (CACNB2) MANE Select | ENSP00000320025.8:p.Phe555Leu | |
| ENST00000377315.5:c.1519T>C (CACNB2) | ENSP00000366532.4:p.Phe507Leu | |
| ENST00000377319.8:c.1384T>C (CACNB2) | ENSP00000366536.3:p.Phe462Leu | |
| ENST00000377329.10:c.1501T>C (CACNB2) MANE Plus Clinical | ENSP00000366546.4:p.Phe501Leu | |
| ENST00000377331.8:c.1288T>C (CACNB2) | ENSP00000366548.4:p.Phe430Leu | |
| ENST00000643096.2:c.1465T>C (CACNB2) | ENSP00000494209.2:p.Phe489Leu | |
| ENST00000645287.1:c.1507T>C (CACNB2) | ENSP00000496203.1:p.Phe503Leu | |
| ENST00000647168.2:c.*804T>C (CACNB2) | ENSP00000495854.2:n.*804T>C | |
| ENST00000650685.1:c.1405T>C (CACNB2) | ENSP00000498460.1:p.Phe469Leu | |
| ENST00000651330.1:c.*937T>C (CACNB2) | ENSP00000498457.1:n.*937T>C | |
| ENST00000651468.1:c.1220T>C (CACNB2) | ENSP00000498352.1:n.1220T>C | |
| ENST00000651928.1:c.*902T>C (CACNB2) | ENSP00000499177.1:n.*902T>C | |
| ENST00000652391.1:c.1483T>C (CACNB2) | ENSP00000498938.1:p.Phe495Leu | |
| ENST00000652478.1:c.*763T>C (CACNB2) | ENSP00000498812.1:n.*763T>C | |
| ENST00000282343.12:c.1579T>C (CACNB2) | ENSP00000282343.8:p.Phe527Leu | |
| ENST00000324631.11:c.1663T>C (CACNB2) | ENSP00000320025.7:p.Phe555Leu | |
| ENST00000352115.10:c.1591T>C (CACNB2) | ENSP00000344474.6:p.Phe531Leu | |
| ENST00000377315.4:c.1519T>C (CACNB2) | ENSP00000366532.4:p.Phe507Leu | |
| ENST00000377319.7:c.1384T>C (CACNB2) | ENSP00000366536.3:p.Phe462Leu | |
| ENST00000377328.5:c.913T>C (CACNB2) | ENSP00000366545.1:p.Phe305Leu | |
| ENST00000377329.8:c.1501T>C (CACNB2) | ENSP00000366546.4:p.Phe501Leu | |
| ENST00000377331.6:c.1507T>C (CACNB2) | ENSP00000366548.2:p.Phe503Leu | |
| ENST00000396576.6:c.1498T>C (CACNB2) | ENSP00000379821.2:p.Phe500Leu | |
| ENST00000612134.4:c.1367T>C (CACNB2) | ENSP00000480563.1:n.1367T>C | |
| ENST00000612743.1:c.175T>C (CACNB2) | ENSP00000478676.1:p.Phe59Leu | |
| ENST00000615785.4:c.748T>C (CACNB2) | ENSP00000480260.1:p.Phe250Leu | |
| ENST00000617363.4:c.1426T>C (CACNB2) | ENSP00000479756.1:p.Phe476Leu | |
| NM_000724.3:c.1498T>C (CACNB2) | NP_000715.2:p.Phe500Leu | |
| NM_001167945.1:c.1465T>C (CACNB2) | NP_001161417.1:p.Phe489Leu | |
| NM_201570.2:c.1519T>C (CACNB2) | NP_963864.1:p.Phe507Leu | |
| NM_201571.3:c.1579T>C (CACNB2) | NP_963865.2:p.Phe527Leu | |
| NM_201572.3:c.1507T>C (CACNB2) | NP_963866.2:p.Phe503Leu | |
| NM_201590.2:c.1501T>C (CACNB2) | NP_963884.2:p.Phe501Leu | |
| NM_201593.2:c.1549T>C (CACNB2) | NP_963887.2:p.Phe517Leu | |
| NM_201596.2:c.1663T>C (CACNB2) | NP_963890.2:p.Phe555Leu | |
| NM_201597.2:c.1591T>C (CACNB2) | NP_963891.1:p.Phe531Leu | |
| XM_005252588.2:c.1405T>C (CACNB2) | XP_005252645.1:p.Phe469Leu | |
| XM_005252591.2:c.823T>C (CACNB2) | XP_005252648.1:p.Phe275Leu | |
| XM_006717502.2:c.1483T>C (CACNB2) | XP_006717565.1:p.Phe495Leu | |
| XM_011519659.1:c.1429T>C (CACNB2) | XP_011517961.1:p.Phe477Leu | |
| XM_011519660.1:c.1384T>C (CACNB2) | XP_011517962.1:p.Phe462Leu | |
| NM_001330060.1:c.1384T>C (CACNB2) | NP_001316989.1:p.Phe462Leu | |
| XM_005252588.4:c.1405T>C (CACNB2) | XP_005252645.1:p.Phe469Leu | |
| XM_005252591.3:c.823T>C (CACNB2) | XP_005252648.1:p.Phe275Leu | |
| XM_006717502.3:c.1483T>C (CACNB2) | XP_006717565.1:p.Phe495Leu | |
| XM_011519659.2:c.1429T>C (CACNB2) | XP_011517961.1:p.Phe477Leu | |
| XM_017016625.1:c.823T>C (CACNB2) | XP_016872114.1:p.Phe275Leu | |
| XR_001747060.1:n.2423+2665A>G (NSUN6) | ||
| XR_001747198.1:n.1788T>C (CACNB2) | ||
| NM_000724.4:c.1498T>C (CACNB2) | NP_000715.2:p.Phe500Leu | |
| NM_001167945.2:c.1465T>C (CACNB2) | NP_001161417.1:p.Phe489Leu | |
| NM_001330060.2:c.1384T>C (CACNB2) | NP_001316989.1:p.Phe462Leu | |
| NM_201570.3:c.1519T>C (CACNB2) | NP_963864.1:p.Phe507Leu | |
| NM_201571.4:c.1579T>C (CACNB2) | NP_963865.2:p.Phe527Leu | |
| NM_201572.4:c.1507T>C (CACNB2) | NP_963866.2:p.Phe503Leu | |
| NM_201590.3:c.1501T>C (CACNB2) MANE Plus Clinical | NP_963884.2:p.Phe501Leu | |
| NM_201593.3:c.1549T>C (CACNB2) | NP_963887.2:p.Phe517Leu | |
| NM_201596.3:c.1663T>C (CACNB2) MANE Select | NP_963890.2:p.Phe555Leu | |
| NM_201597.3:c.1591T>C (CACNB2) | NP_963891.1:p.Phe531Leu |