Linked Data
dbSNP Id:
rs766295120
ExAC:
10:18828304 C / T
gnomAD v2:
10-18828304-C-T
gnomAD v4:
10-18539375-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.18539375C>T , CM000672.2:g.18539375C>T | GRCh38 |
| NC_000010.10:g.18828304C>T , CM000672.1:g.18828304C>T | GRCh37 |
| NC_000010.9:g.18868310C>T | NCBI36 |
| NG_016195.1:g.403699C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377315.6:c.1490C>T (CACNB2) | ENSP00000366532.4:p.Thr497Ile | |
| ENST00000377319.9:c.1355C>T (CACNB2) | ENSP00000366536.3:p.Thr452Ile | |
| ENST00000645287.2:c.1478C>T (CACNB2) | ENSP00000496203.1:p.Thr493Ile | |
| ENST00000282343.13:c.1550C>T (CACNB2) | ENSP00000282343.8:p.Thr517Ile | |
| ENST00000324631.13:c.1634C>T (CACNB2) MANE Select | ENSP00000320025.8:p.Thr545Ile | |
| ENST00000377315.5:c.1490C>T (CACNB2) | ENSP00000366532.4:p.Thr497Ile | |
| ENST00000377319.8:c.1355C>T (CACNB2) | ENSP00000366536.3:p.Thr452Ile | |
| ENST00000377329.10:c.1472C>T (CACNB2) MANE Plus Clinical | ENSP00000366546.4:p.Thr491Ile | |
| ENST00000377331.8:c.1259C>T (CACNB2) | ENSP00000366548.4:p.Thr420Ile | |
| ENST00000643096.2:c.1436C>T (CACNB2) | ENSP00000494209.2:p.Thr479Ile | |
| ENST00000645287.1:c.1478C>T (CACNB2) | ENSP00000496203.1:p.Thr493Ile | |
| ENST00000647168.2:c.*775C>T (CACNB2) | ENSP00000495854.2:n.*775C>T | |
| ENST00000650685.1:c.1376C>T (CACNB2) | ENSP00000498460.1:p.Thr459Ile | |
| ENST00000651330.1:c.*908C>T (CACNB2) | ENSP00000498457.1:n.*908C>T | |
| ENST00000651468.1:c.1191C>T (CACNB2) | ENSP00000498352.1:n.1191C>T | |
| ENST00000651928.1:c.*873C>T (CACNB2) | ENSP00000499177.1:n.*873C>T | |
| ENST00000652391.1:c.1454C>T (CACNB2) | ENSP00000498938.1:p.Thr485Ile | |
| ENST00000652478.1:c.*734C>T (CACNB2) | ENSP00000498812.1:n.*734C>T | |
| ENST00000282343.12:c.1550C>T (CACNB2) | ENSP00000282343.8:p.Thr517Ile | |
| ENST00000324631.11:c.1634C>T (CACNB2) | ENSP00000320025.7:p.Thr545Ile | |
| ENST00000352115.10:c.1562C>T (CACNB2) | ENSP00000344474.6:p.Thr521Ile | |
| ENST00000377315.4:c.1490C>T (CACNB2) | ENSP00000366532.4:p.Thr497Ile | |
| ENST00000377319.7:c.1355C>T (CACNB2) | ENSP00000366536.3:p.Thr452Ile | |
| ENST00000377328.5:c.884C>T (CACNB2) | ENSP00000366545.1:p.Thr295Ile | |
| ENST00000377329.8:c.1472C>T (CACNB2) | ENSP00000366546.4:p.Thr491Ile | |
| ENST00000377331.6:c.1478C>T (CACNB2) | ENSP00000366548.2:p.Thr493Ile | |
| ENST00000396576.6:c.1469C>T (CACNB2) | ENSP00000379821.2:p.Thr490Ile | |
| ENST00000612134.4:c.1338C>T (CACNB2) | ENSP00000480563.1:n.1338C>T | |
| ENST00000612743.1:c.146C>T (CACNB2) | ENSP00000478676.1:p.Thr49Ile | |
| ENST00000615785.4:c.719C>T (CACNB2) | ENSP00000480260.1:p.Thr240Ile | |
| ENST00000617363.4:c.1397C>T (CACNB2) | ENSP00000479756.1:p.Thr466Ile | |
| NM_000724.3:c.1469C>T (CACNB2) | NP_000715.2:p.Thr490Ile | |
| NM_001167945.1:c.1436C>T (CACNB2) | NP_001161417.1:p.Thr479Ile | |
| NM_201570.2:c.1490C>T (CACNB2) | NP_963864.1:p.Thr497Ile | |
| NM_201571.3:c.1550C>T (CACNB2) | NP_963865.2:p.Thr517Ile | |
| NM_201572.3:c.1478C>T (CACNB2) | NP_963866.2:p.Thr493Ile | |
| NM_201590.2:c.1472C>T (CACNB2) | NP_963884.2:p.Thr491Ile | |
| NM_201593.2:c.1520C>T (CACNB2) | NP_963887.2:p.Thr507Ile | |
| NM_201596.2:c.1634C>T (CACNB2) | NP_963890.2:p.Thr545Ile | |
| NM_201597.2:c.1562C>T (CACNB2) | NP_963891.1:p.Thr521Ile | |
| XM_005252588.2:c.1376C>T (CACNB2) | XP_005252645.1:p.Thr459Ile | |
| XM_005252591.2:c.794C>T (CACNB2) | XP_005252648.1:p.Thr265Ile | |
| XM_006717502.2:c.1454C>T (CACNB2) | XP_006717565.1:p.Thr485Ile | |
| XM_011519659.1:c.1400C>T (CACNB2) | XP_011517961.1:p.Thr467Ile | |
| XM_011519660.1:c.1355C>T (CACNB2) | XP_011517962.1:p.Thr452Ile | |
| NM_001330060.1:c.1355C>T (CACNB2) | NP_001316989.1:p.Thr452Ile | |
| XM_005252588.4:c.1376C>T (CACNB2) | XP_005252645.1:p.Thr459Ile | |
| XM_005252591.3:c.794C>T (CACNB2) | XP_005252648.1:p.Thr265Ile | |
| XM_006717502.3:c.1454C>T (CACNB2) | XP_006717565.1:p.Thr485Ile | |
| XM_011519659.2:c.1400C>T (CACNB2) | XP_011517961.1:p.Thr467Ile | |
| XM_017016625.1:c.794C>T (CACNB2) | XP_016872114.1:p.Thr265Ile | |
| XR_001747060.1:n.2423+2694G>A (NSUN6) | ||
| XR_001747198.1:n.1759C>T (CACNB2) | ||
| NM_000724.4:c.1469C>T (CACNB2) | NP_000715.2:p.Thr490Ile | |
| NM_001167945.2:c.1436C>T (CACNB2) | NP_001161417.1:p.Thr479Ile | |
| NM_001330060.2:c.1355C>T (CACNB2) | NP_001316989.1:p.Thr452Ile | |
| NM_201570.3:c.1490C>T (CACNB2) | NP_963864.1:p.Thr497Ile | |
| NM_201571.4:c.1550C>T (CACNB2) | NP_963865.2:p.Thr517Ile | |
| NM_201572.4:c.1478C>T (CACNB2) | NP_963866.2:p.Thr493Ile | |
| NM_201590.3:c.1472C>T (CACNB2) MANE Plus Clinical | NP_963884.2:p.Thr491Ile | |
| NM_201593.3:c.1520C>T (CACNB2) | NP_963887.2:p.Thr507Ile | |
| NM_201596.3:c.1634C>T (CACNB2) MANE Select | NP_963890.2:p.Thr545Ile | |
| NM_201597.3:c.1562C>T (CACNB2) | NP_963891.1:p.Thr521Ile |