Linked Data
ClinVar Variation Id:
2066514
ClinVar RCV Id:
RCV002934057
dbSNP Id:
rs770237131
ExAC:
10:18828329 G / C
gnomAD v2:
10-18828329-G-C
gnomAD v3:
10-18539400-G-C
gnomAD v4:
10-18539400-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.18539400G>C , CM000672.2:g.18539400G>C | GRCh38 |
| NC_000010.10:g.18828329G>C , CM000672.1:g.18828329G>C | GRCh37 |
| NC_000010.9:g.18868335G>C | NCBI36 |
| NG_016195.1:g.403724G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377315.6:c.1515G>C (CACNB2) | ENSP00000366532.4:p.Glu505Asp | |
| ENST00000377319.9:c.1380G>C (CACNB2) | ENSP00000366536.3:p.Glu460Asp | |
| ENST00000645287.2:c.1503G>C (CACNB2) | ENSP00000496203.1:p.Glu501Asp | |
| ENST00000282343.13:c.1575G>C (CACNB2) | ENSP00000282343.8:p.Glu525Asp | |
| ENST00000324631.13:c.1659G>C (CACNB2) MANE Select | ENSP00000320025.8:p.Glu553Asp | |
| ENST00000377315.5:c.1515G>C (CACNB2) | ENSP00000366532.4:p.Glu505Asp | |
| ENST00000377319.8:c.1380G>C (CACNB2) | ENSP00000366536.3:p.Glu460Asp | |
| ENST00000377329.10:c.1497G>C (CACNB2) MANE Plus Clinical | ENSP00000366546.4:p.Glu499Asp | |
| ENST00000377331.8:c.1284G>C (CACNB2) | ENSP00000366548.4:p.Glu428Asp | |
| ENST00000643096.2:c.1461G>C (CACNB2) | ENSP00000494209.2:p.Glu487Asp | |
| ENST00000645287.1:c.1503G>C (CACNB2) | ENSP00000496203.1:p.Glu501Asp | |
| ENST00000647168.2:c.*800G>C (CACNB2) | ENSP00000495854.2:n.*800G>C | |
| ENST00000650685.1:c.1401G>C (CACNB2) | ENSP00000498460.1:p.Glu467Asp | |
| ENST00000651330.1:c.*933G>C (CACNB2) | ENSP00000498457.1:n.*933G>C | |
| ENST00000651468.1:c.1216G>C (CACNB2) | ENSP00000498352.1:n.1216G>C | |
| ENST00000651928.1:c.*898G>C (CACNB2) | ENSP00000499177.1:n.*898G>C | |
| ENST00000652391.1:c.1479G>C (CACNB2) | ENSP00000498938.1:p.Glu493Asp | |
| ENST00000652478.1:c.*759G>C (CACNB2) | ENSP00000498812.1:n.*759G>C | |
| ENST00000282343.12:c.1575G>C (CACNB2) | ENSP00000282343.8:p.Glu525Asp | |
| ENST00000324631.11:c.1659G>C (CACNB2) | ENSP00000320025.7:p.Glu553Asp | |
| ENST00000352115.10:c.1587G>C (CACNB2) | ENSP00000344474.6:p.Glu529Asp | |
| ENST00000377315.4:c.1515G>C (CACNB2) | ENSP00000366532.4:p.Glu505Asp | |
| ENST00000377319.7:c.1380G>C (CACNB2) | ENSP00000366536.3:p.Glu460Asp | |
| ENST00000377328.5:c.909G>C (CACNB2) | ENSP00000366545.1:p.Glu303Asp | |
| ENST00000377329.8:c.1497G>C (CACNB2) | ENSP00000366546.4:p.Glu499Asp | |
| ENST00000377331.6:c.1503G>C (CACNB2) | ENSP00000366548.2:p.Glu501Asp | |
| ENST00000396576.6:c.1494G>C (CACNB2) | ENSP00000379821.2:p.Glu498Asp | |
| ENST00000612134.4:c.1363G>C (CACNB2) | ENSP00000480563.1:n.1363G>C | |
| ENST00000612743.1:c.171G>C (CACNB2) | ENSP00000478676.1:p.Glu57Asp | |
| ENST00000615785.4:c.744G>C (CACNB2) | ENSP00000480260.1:p.Glu248Asp | |
| ENST00000617363.4:c.1422G>C (CACNB2) | ENSP00000479756.1:p.Glu474Asp | |
| NM_000724.3:c.1494G>C (CACNB2) | NP_000715.2:p.Glu498Asp | |
| NM_001167945.1:c.1461G>C (CACNB2) | NP_001161417.1:p.Glu487Asp | |
| NM_201570.2:c.1515G>C (CACNB2) | NP_963864.1:p.Glu505Asp | |
| NM_201571.3:c.1575G>C (CACNB2) | NP_963865.2:p.Glu525Asp | |
| NM_201572.3:c.1503G>C (CACNB2) | NP_963866.2:p.Glu501Asp | |
| NM_201590.2:c.1497G>C (CACNB2) | NP_963884.2:p.Glu499Asp | |
| NM_201593.2:c.1545G>C (CACNB2) | NP_963887.2:p.Glu515Asp | |
| NM_201596.2:c.1659G>C (CACNB2) | NP_963890.2:p.Glu553Asp | |
| NM_201597.2:c.1587G>C (CACNB2) | NP_963891.1:p.Glu529Asp | |
| XM_005252588.2:c.1401G>C (CACNB2) | XP_005252645.1:p.Glu467Asp | |
| XM_005252591.2:c.819G>C (CACNB2) | XP_005252648.1:p.Glu273Asp | |
| XM_006717502.2:c.1479G>C (CACNB2) | XP_006717565.1:p.Glu493Asp | |
| XM_011519659.1:c.1425G>C (CACNB2) | XP_011517961.1:p.Glu475Asp | |
| XM_011519660.1:c.1380G>C (CACNB2) | XP_011517962.1:p.Glu460Asp | |
| NM_001330060.1:c.1380G>C (CACNB2) | NP_001316989.1:p.Glu460Asp | |
| XM_005252588.4:c.1401G>C (CACNB2) | XP_005252645.1:p.Glu467Asp | |
| XM_005252591.3:c.819G>C (CACNB2) | XP_005252648.1:p.Glu273Asp | |
| XM_006717502.3:c.1479G>C (CACNB2) | XP_006717565.1:p.Glu493Asp | |
| XM_011519659.2:c.1425G>C (CACNB2) | XP_011517961.1:p.Glu475Asp | |
| XM_017016625.1:c.819G>C (CACNB2) | XP_016872114.1:p.Glu273Asp | |
| XR_001747060.1:n.2423+2669C>G (NSUN6) | ||
| XR_001747198.1:n.1784G>C (CACNB2) | ||
| NM_000724.4:c.1494G>C (CACNB2) | NP_000715.2:p.Glu498Asp | |
| NM_001167945.2:c.1461G>C (CACNB2) | NP_001161417.1:p.Glu487Asp | |
| NM_001330060.2:c.1380G>C (CACNB2) | NP_001316989.1:p.Glu460Asp | |
| NM_201570.3:c.1515G>C (CACNB2) | NP_963864.1:p.Glu505Asp | |
| NM_201571.4:c.1575G>C (CACNB2) | NP_963865.2:p.Glu525Asp | |
| NM_201572.4:c.1503G>C (CACNB2) | NP_963866.2:p.Glu501Asp | |
| NM_201590.3:c.1497G>C (CACNB2) MANE Plus Clinical | NP_963884.2:p.Glu499Asp | |
| NM_201593.3:c.1545G>C (CACNB2) | NP_963887.2:p.Glu515Asp | |
| NM_201596.3:c.1659G>C (CACNB2) MANE Select | NP_963890.2:p.Glu553Asp | |
| NM_201597.3:c.1587G>C (CACNB2) | NP_963891.1:p.Glu529Asp |