Linked Data
ClinVar Variation Id:
190730
dbSNP Id:
rs137886839
ExAC:
10:18828340 C / T
gnomAD v2:
10-18828340-C-T
gnomAD v3:
10-18539411-C-T
gnomAD v4:
10-18539411-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.18539411C>T , CM000672.2:g.18539411C>T | GRCh38 |
| NC_000010.10:g.18828340C>T , CM000672.1:g.18828340C>T | GRCh37 |
| NC_000010.9:g.18868346C>T | NCBI36 |
| NG_016195.1:g.403735C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377315.6:c.1526C>T (CACNB2) | ENSP00000366532.4:p.Ser509Leu | |
| ENST00000377319.9:c.1391C>T (CACNB2) | ENSP00000366536.3:p.Ser464Leu | |
| ENST00000645287.2:c.1514C>T (CACNB2) | ENSP00000496203.1:p.Ser505Leu | |
| ENST00000282343.13:c.1586C>T (CACNB2) | ENSP00000282343.8:p.Ser529Leu | |
| ENST00000324631.13:c.1670C>T (CACNB2) MANE Select | ENSP00000320025.8:p.Ser557Leu | |
| ENST00000377315.5:c.1526C>T (CACNB2) | ENSP00000366532.4:p.Ser509Leu | |
| ENST00000377319.8:c.1391C>T (CACNB2) | ENSP00000366536.3:p.Ser464Leu | |
| ENST00000377329.10:c.1508C>T (CACNB2) MANE Plus Clinical | ENSP00000366546.4:p.Ser503Leu | |
| ENST00000377331.8:c.1295C>T (CACNB2) | ENSP00000366548.4:p.Ser432Leu | |
| ENST00000643096.2:c.1472C>T (CACNB2) | ENSP00000494209.2:p.Ser491Leu | |
| ENST00000645287.1:c.1514C>T (CACNB2) | ENSP00000496203.1:p.Ser505Leu | |
| ENST00000647168.2:c.*811C>T (CACNB2) | ENSP00000495854.2:n.*811C>T | |
| ENST00000650685.1:c.1412C>T (CACNB2) | ENSP00000498460.1:p.Ser471Leu | |
| ENST00000651330.1:c.*944C>T (CACNB2) | ENSP00000498457.1:n.*944C>T | |
| ENST00000651468.1:c.1227C>T (CACNB2) | ENSP00000498352.1:n.1227C>T | |
| ENST00000651928.1:c.*909C>T (CACNB2) | ENSP00000499177.1:n.*909C>T | |
| ENST00000652391.1:c.1490C>T (CACNB2) | ENSP00000498938.1:p.Ser497Leu | |
| ENST00000652478.1:c.*770C>T (CACNB2) | ENSP00000498812.1:n.*770C>T | |
| ENST00000282343.12:c.1586C>T (CACNB2) | ENSP00000282343.8:p.Ser529Leu | |
| ENST00000324631.11:c.1670C>T (CACNB2) | ENSP00000320025.7:p.Ser557Leu | |
| ENST00000352115.10:c.1598C>T (CACNB2) | ENSP00000344474.6:p.Ser533Leu | |
| ENST00000377315.4:c.1526C>T (CACNB2) | ENSP00000366532.4:p.Ser509Leu | |
| ENST00000377319.7:c.1391C>T (CACNB2) | ENSP00000366536.3:p.Ser464Leu | |
| ENST00000377328.5:c.920C>T (CACNB2) | ENSP00000366545.1:p.Ser307Leu | |
| ENST00000377329.8:c.1508C>T (CACNB2) | ENSP00000366546.4:p.Ser503Leu | |
| ENST00000377331.6:c.1514C>T (CACNB2) | ENSP00000366548.2:p.Ser505Leu | |
| ENST00000396576.6:c.1505C>T (CACNB2) | ENSP00000379821.2:p.Ser502Leu | |
| ENST00000612134.4:c.1374C>T (CACNB2) | ENSP00000480563.1:n.1374C>T | |
| ENST00000612743.1:c.182C>T (CACNB2) | ENSP00000478676.1:p.Ser61Leu | |
| ENST00000615785.4:c.755C>T (CACNB2) | ENSP00000480260.1:p.Ser252Leu | |
| ENST00000617363.4:c.1433C>T (CACNB2) | ENSP00000479756.1:p.Ser478Leu | |
| NM_000724.3:c.1505C>T (CACNB2) | NP_000715.2:p.Ser502Leu | |
| NM_001167945.1:c.1472C>T (CACNB2) | NP_001161417.1:p.Ser491Leu | |
| NM_201570.2:c.1526C>T (CACNB2) | NP_963864.1:p.Ser509Leu | |
| NM_201571.3:c.1586C>T (CACNB2) | NP_963865.2:p.Ser529Leu | |
| NM_201572.3:c.1514C>T (CACNB2) | NP_963866.2:p.Ser505Leu | |
| NM_201590.2:c.1508C>T (CACNB2) | NP_963884.2:p.Ser503Leu | |
| NM_201593.2:c.1556C>T (CACNB2) | NP_963887.2:p.Ser519Leu | |
| NM_201596.2:c.1670C>T (CACNB2) | NP_963890.2:p.Ser557Leu | |
| NM_201597.2:c.1598C>T (CACNB2) | NP_963891.1:p.Ser533Leu | |
| XM_005252588.2:c.1412C>T (CACNB2) | XP_005252645.1:p.Ser471Leu | |
| XM_005252591.2:c.830C>T (CACNB2) | XP_005252648.1:p.Ser277Leu | |
| XM_006717502.2:c.1490C>T (CACNB2) | XP_006717565.1:p.Ser497Leu | |
| XM_011519659.1:c.1436C>T (CACNB2) | XP_011517961.1:p.Ser479Leu | |
| XM_011519660.1:c.1391C>T (CACNB2) | XP_011517962.1:p.Ser464Leu | |
| NM_001330060.1:c.1391C>T (CACNB2) | NP_001316989.1:p.Ser464Leu | |
| XM_005252588.4:c.1412C>T (CACNB2) | XP_005252645.1:p.Ser471Leu | |
| XM_005252591.3:c.830C>T (CACNB2) | XP_005252648.1:p.Ser277Leu | |
| XM_006717502.3:c.1490C>T (CACNB2) | XP_006717565.1:p.Ser497Leu | |
| XM_011519659.2:c.1436C>T (CACNB2) | XP_011517961.1:p.Ser479Leu | |
| XM_017016625.1:c.830C>T (CACNB2) | XP_016872114.1:p.Ser277Leu | |
| XR_001747060.1:n.2423+2658G>A (NSUN6) | ||
| XR_001747198.1:n.1795C>T (CACNB2) | ||
| NM_000724.4:c.1505C>T (CACNB2) | NP_000715.2:p.Ser502Leu | |
| NM_001167945.2:c.1472C>T (CACNB2) | NP_001161417.1:p.Ser491Leu | |
| NM_001330060.2:c.1391C>T (CACNB2) | NP_001316989.1:p.Ser464Leu | |
| NM_201570.3:c.1526C>T (CACNB2) | NP_963864.1:p.Ser509Leu | |
| NM_201571.4:c.1586C>T (CACNB2) | NP_963865.2:p.Ser529Leu | |
| NM_201572.4:c.1514C>T (CACNB2) | NP_963866.2:p.Ser505Leu | |
| NM_201590.3:c.1508C>T (CACNB2) MANE Plus Clinical | NP_963884.2:p.Ser503Leu | |
| NM_201593.3:c.1556C>T (CACNB2) | NP_963887.2:p.Ser519Leu | |
| NM_201596.3:c.1670C>T (CACNB2) MANE Select | NP_963890.2:p.Ser557Leu | |
| NM_201597.3:c.1598C>T (CACNB2) | NP_963891.1:p.Ser533Leu |