Linked Data
ClinVar Variation Id:
420386
ClinVar RCV Id:
RCV001341327
dbSNP Id:
rs200613235
ExAC:
10:18828561 A / G
gnomAD v2:
10-18828561-A-G
gnomAD v3:
10-18539632-A-G
gnomAD v4:
10-18539632-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.18539632A>G , CM000672.2:g.18539632A>G | GRCh38 |
| NC_000010.10:g.18828561A>G , CM000672.1:g.18828561A>G | GRCh37 |
| NC_000010.9:g.18868567A>G | NCBI36 |
| NG_016195.1:g.403956A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000377315.6:c.1747A>G (CACNB2) | ENSP00000366532.4:p.Lys583Glu | |
| ENST00000377319.9:c.1612A>G (CACNB2) | ENSP00000366536.3:p.Lys538Glu | |
| ENST00000645287.2:c.1735A>G (CACNB2) | ENSP00000496203.1:p.Lys579Glu | |
| ENST00000282343.13:c.1807A>G (CACNB2) | ENSP00000282343.8:p.Lys603Glu | |
| ENST00000324631.13:c.1891A>G (CACNB2) MANE Select | ENSP00000320025.8:p.Lys631Glu | |
| ENST00000377315.5:c.1747A>G (CACNB2) | ENSP00000366532.4:p.Lys583Glu | |
| ENST00000377319.8:c.1612A>G (CACNB2) | ENSP00000366536.3:p.Lys538Glu | |
| ENST00000377329.10:c.1729A>G (CACNB2) MANE Plus Clinical | ENSP00000366546.4:p.Lys577Glu | |
| ENST00000377331.8:c.1516A>G (CACNB2) | ENSP00000366548.4:p.Lys506Glu | |
| ENST00000643096.2:c.1693A>G (CACNB2) | ENSP00000494209.2:p.Lys565Glu | |
| ENST00000645287.1:c.1735A>G (CACNB2) | ENSP00000496203.1:p.Lys579Glu | |
| ENST00000647168.2:c.*1032A>G (CACNB2) | ENSP00000495854.2:n.*1032A>G | |
| ENST00000650685.1:c.1633A>G (CACNB2) | ENSP00000498460.1:p.Lys545Glu | |
| ENST00000651330.1:c.*1165A>G (CACNB2) | ENSP00000498457.1:n.*1165A>G | |
| ENST00000651468.1:c.1448A>G (CACNB2) | ENSP00000498352.1:n.1448A>G | |
| ENST00000651928.1:c.*1130A>G (CACNB2) | ENSP00000499177.1:n.*1130A>G | |
| ENST00000652391.1:c.1711A>G (CACNB2) | ENSP00000498938.1:p.Lys571Glu | |
| ENST00000652478.1:c.*991A>G (CACNB2) | ENSP00000498812.1:n.*991A>G | |
| ENST00000282343.12:c.1807A>G (CACNB2) | ENSP00000282343.8:p.Lys603Glu | |
| ENST00000324631.11:c.1891A>G (CACNB2) | ENSP00000320025.7:p.Lys631Glu | |
| ENST00000352115.10:c.1819A>G (CACNB2) | ENSP00000344474.6:p.Lys607Glu | |
| ENST00000377315.4:c.1747A>G (CACNB2) | ENSP00000366532.4:p.Lys583Glu | |
| ENST00000377319.7:c.1612A>G (CACNB2) | ENSP00000366536.3:p.Lys538Glu | |
| ENST00000377328.5:c.1141A>G (CACNB2) | ENSP00000366545.1:p.Lys381Glu | |
| ENST00000377329.8:c.1729A>G (CACNB2) | ENSP00000366546.4:p.Lys577Glu | |
| ENST00000377331.6:c.1735A>G (CACNB2) | ENSP00000366548.2:p.Lys579Glu | |
| ENST00000396576.6:c.1726A>G (CACNB2) | ENSP00000379821.2:p.Lys576Glu | |
| ENST00000612134.4:c.1595A>G (CACNB2) | ENSP00000480563.1:n.1595A>G | |
| ENST00000612743.1:c.403A>G (CACNB2) | ENSP00000478676.1:p.Lys135Glu | |
| ENST00000615785.4:c.976A>G (CACNB2) | ENSP00000480260.1:p.Lys326Glu | |
| ENST00000617363.4:c.1654A>G (CACNB2) | ENSP00000479756.1:p.Lys552Glu | |
| NM_000724.3:c.1726A>G (CACNB2) | NP_000715.2:p.Lys576Glu | |
| NM_001167945.1:c.1693A>G (CACNB2) | NP_001161417.1:p.Lys565Glu | |
| NM_201570.2:c.1747A>G (CACNB2) | NP_963864.1:p.Lys583Glu | |
| NM_201571.3:c.1807A>G (CACNB2) | NP_963865.2:p.Lys603Glu | |
| NM_201572.3:c.1735A>G (CACNB2) | NP_963866.2:p.Lys579Glu | |
| NM_201590.2:c.1729A>G (CACNB2) | NP_963884.2:p.Lys577Glu | |
| NM_201593.2:c.1777A>G (CACNB2) | NP_963887.2:p.Lys593Glu | |
| NM_201596.2:c.1891A>G (CACNB2) | NP_963890.2:p.Lys631Glu | |
| NM_201597.2:c.1819A>G (CACNB2) | NP_963891.1:p.Lys607Glu | |
| XM_005252588.2:c.1633A>G (CACNB2) | XP_005252645.1:p.Lys545Glu | |
| XM_005252591.2:c.1051A>G (CACNB2) | XP_005252648.1:p.Lys351Glu | |
| XM_006717502.2:c.1711A>G (CACNB2) | XP_006717565.1:p.Lys571Glu | |
| XM_011519659.1:c.1657A>G (CACNB2) | XP_011517961.1:p.Lys553Glu | |
| XM_011519660.1:c.1612A>G (CACNB2) | XP_011517962.1:p.Lys538Glu | |
| NM_001330060.1:c.1612A>G (CACNB2) | NP_001316989.1:p.Lys538Glu | |
| XM_005252588.4:c.1633A>G (CACNB2) | XP_005252645.1:p.Lys545Glu | |
| XM_005252591.3:c.1051A>G (CACNB2) | XP_005252648.1:p.Lys351Glu | |
| XM_006717502.3:c.1711A>G (CACNB2) | XP_006717565.1:p.Lys571Glu | |
| XM_011519659.2:c.1657A>G (CACNB2) | XP_011517961.1:p.Lys553Glu | |
| XM_017016625.1:c.1051A>G (CACNB2) | XP_016872114.1:p.Lys351Glu | |
| XR_001747060.1:n.2423+2437T>C (NSUN6) | ||
| XR_001747198.1:n.2016A>G (CACNB2) | ||
| NM_000724.4:c.1726A>G (CACNB2) | NP_000715.2:p.Lys576Glu | |
| NM_001167945.2:c.1693A>G (CACNB2) | NP_001161417.1:p.Lys565Glu | |
| NM_001330060.2:c.1612A>G (CACNB2) | NP_001316989.1:p.Lys538Glu | |
| NM_201570.3:c.1747A>G (CACNB2) | NP_963864.1:p.Lys583Glu | |
| NM_201571.4:c.1807A>G (CACNB2) | NP_963865.2:p.Lys603Glu | |
| NM_201572.4:c.1735A>G (CACNB2) | NP_963866.2:p.Lys579Glu | |
| NM_201590.3:c.1729A>G (CACNB2) MANE Plus Clinical | NP_963884.2:p.Lys577Glu | |
| NM_201593.3:c.1777A>G (CACNB2) | NP_963887.2:p.Lys593Glu | |
| NM_201596.3:c.1891A>G (CACNB2) MANE Select | NP_963890.2:p.Lys631Glu | |
| NM_201597.3:c.1819A>G (CACNB2) | NP_963891.1:p.Lys607Glu |