Linked Data
ClinVar Variation Id:
469642
dbSNP Id:
rs780045364
ExAC:
10:18828568 G / A
gnomAD v2:
10-18828568-G-A
gnomAD v3:
10-18539639-G-A
gnomAD v4:
10-18539639-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.18539639G>A , CM000672.2:g.18539639G>A | GRCh38 |
| NC_000010.10:g.18828568G>A , CM000672.1:g.18828568G>A | GRCh37 |
| NC_000010.9:g.18868574G>A | NCBI36 |
| NG_016195.1:g.403963G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377315.6:c.1754G>A (CACNB2) | ENSP00000366532.4:p.Arg585His | |
| ENST00000377319.9:c.1619G>A (CACNB2) | ENSP00000366536.3:p.Arg540His | |
| ENST00000645287.2:c.1742G>A (CACNB2) | ENSP00000496203.1:p.Arg581His | |
| ENST00000282343.13:c.1814G>A (CACNB2) | ENSP00000282343.8:p.Arg605His | |
| ENST00000324631.13:c.1898G>A (CACNB2) MANE Select | ENSP00000320025.8:p.Arg633His | |
| ENST00000377315.5:c.1754G>A (CACNB2) | ENSP00000366532.4:p.Arg585His | |
| ENST00000377319.8:c.1619G>A (CACNB2) | ENSP00000366536.3:p.Arg540His | |
| ENST00000377329.10:c.1736G>A (CACNB2) MANE Plus Clinical | ENSP00000366546.4:p.Arg579His | |
| ENST00000377331.8:c.1523G>A (CACNB2) | ENSP00000366548.4:p.Arg508His | |
| ENST00000643096.2:c.1700G>A (CACNB2) | ENSP00000494209.2:p.Arg567His | |
| ENST00000645287.1:c.1742G>A (CACNB2) | ENSP00000496203.1:p.Arg581His | |
| ENST00000647168.2:c.*1039G>A (CACNB2) | ENSP00000495854.2:n.*1039G>A | |
| ENST00000650685.1:c.1640G>A (CACNB2) | ENSP00000498460.1:p.Arg547His | |
| ENST00000651330.1:c.*1172G>A (CACNB2) | ENSP00000498457.1:n.*1172G>A | |
| ENST00000651468.1:c.1455G>A (CACNB2) | ENSP00000498352.1:n.1455G>A | |
| ENST00000651928.1:c.*1137G>A (CACNB2) | ENSP00000499177.1:n.*1137G>A | |
| ENST00000652391.1:c.1718G>A (CACNB2) | ENSP00000498938.1:p.Arg573His | |
| ENST00000652478.1:c.*998G>A (CACNB2) | ENSP00000498812.1:n.*998G>A | |
| ENST00000282343.12:c.1814G>A (CACNB2) | ENSP00000282343.8:p.Arg605His | |
| ENST00000324631.11:c.1898G>A (CACNB2) | ENSP00000320025.7:p.Arg633His | |
| ENST00000352115.10:c.1826G>A (CACNB2) | ENSP00000344474.6:p.Arg609His | |
| ENST00000377315.4:c.1754G>A (CACNB2) | ENSP00000366532.4:p.Arg585His | |
| ENST00000377319.7:c.1619G>A (CACNB2) | ENSP00000366536.3:p.Arg540His | |
| ENST00000377328.5:c.1148G>A (CACNB2) | ENSP00000366545.1:p.Arg383His | |
| ENST00000377329.8:c.1736G>A (CACNB2) | ENSP00000366546.4:p.Arg579His | |
| ENST00000377331.6:c.1742G>A (CACNB2) | ENSP00000366548.2:p.Arg581His | |
| ENST00000396576.6:c.1733G>A (CACNB2) | ENSP00000379821.2:p.Arg578His | |
| ENST00000612134.4:c.1602G>A (CACNB2) | ENSP00000480563.1:n.1602G>A | |
| ENST00000612743.1:c.410G>A (CACNB2) | ENSP00000478676.1:p.Arg137His | |
| ENST00000615785.4:c.983G>A (CACNB2) | ENSP00000480260.1:p.Arg328His | |
| ENST00000617363.4:c.1661G>A (CACNB2) | ENSP00000479756.1:p.Arg554His | |
| NM_000724.3:c.1733G>A (CACNB2) | NP_000715.2:p.Arg578His | |
| NM_001167945.1:c.1700G>A (CACNB2) | NP_001161417.1:p.Arg567His | |
| NM_201570.2:c.1754G>A (CACNB2) | NP_963864.1:p.Arg585His | |
| NM_201571.3:c.1814G>A (CACNB2) | NP_963865.2:p.Arg605His | |
| NM_201572.3:c.1742G>A (CACNB2) | NP_963866.2:p.Arg581His | |
| NM_201590.2:c.1736G>A (CACNB2) | NP_963884.2:p.Arg579His | |
| NM_201593.2:c.1784G>A (CACNB2) | NP_963887.2:p.Arg595His | |
| NM_201596.2:c.1898G>A (CACNB2) | NP_963890.2:p.Arg633His | |
| NM_201597.2:c.1826G>A (CACNB2) | NP_963891.1:p.Arg609His | |
| XM_005252588.2:c.1640G>A (CACNB2) | XP_005252645.1:p.Arg547His | |
| XM_005252591.2:c.1058G>A (CACNB2) | XP_005252648.1:p.Arg353His | |
| XM_006717502.2:c.1718G>A (CACNB2) | XP_006717565.1:p.Arg573His | |
| XM_011519659.1:c.1664G>A (CACNB2) | XP_011517961.1:p.Arg555His | |
| XM_011519660.1:c.1619G>A (CACNB2) | XP_011517962.1:p.Arg540His | |
| NM_001330060.1:c.1619G>A (CACNB2) | NP_001316989.1:p.Arg540His | |
| XM_005252588.4:c.1640G>A (CACNB2) | XP_005252645.1:p.Arg547His | |
| XM_005252591.3:c.1058G>A (CACNB2) | XP_005252648.1:p.Arg353His | |
| XM_006717502.3:c.1718G>A (CACNB2) | XP_006717565.1:p.Arg573His | |
| XM_011519659.2:c.1664G>A (CACNB2) | XP_011517961.1:p.Arg555His | |
| XM_017016625.1:c.1058G>A (CACNB2) | XP_016872114.1:p.Arg353His | |
| XR_001747060.1:n.2423+2430C>T (NSUN6) | ||
| XR_001747198.1:n.2023G>A (CACNB2) | ||
| NM_000724.4:c.1733G>A (CACNB2) | NP_000715.2:p.Arg578His | |
| NM_001167945.2:c.1700G>A (CACNB2) | NP_001161417.1:p.Arg567His | |
| NM_001330060.2:c.1619G>A (CACNB2) | NP_001316989.1:p.Arg540His | |
| NM_201570.3:c.1754G>A (CACNB2) | NP_963864.1:p.Arg585His | |
| NM_201571.4:c.1814G>A (CACNB2) | NP_963865.2:p.Arg605His | |
| NM_201572.4:c.1742G>A (CACNB2) | NP_963866.2:p.Arg581His | |
| NM_201590.3:c.1736G>A (CACNB2) MANE Plus Clinical | NP_963884.2:p.Arg579His | |
| NM_201593.3:c.1784G>A (CACNB2) | NP_963887.2:p.Arg595His | |
| NM_201596.3:c.1898G>A (CACNB2) MANE Select | NP_963890.2:p.Arg633His | |
| NM_201597.3:c.1826G>A (CACNB2) | NP_963891.1:p.Arg609His |