Linked Data
ClinVar Variation Id:
1620264
ClinVar RCV Id:
RCV002089338
dbSNP Id:
rs2133337689
MyVariant Identifiers:
chr10:g.18828569C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.18539640C>A , CM000672.2:g.18539640C>A | GRCh38 |
| NC_000010.10:g.18828569C>A , CM000672.1:g.18828569C>A | GRCh37 |
| NC_000010.9:g.18868575C>A | NCBI36 |
| NG_016195.1:g.403964C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377315.6:c.1755C>A (CACNB2) | ENSP00000366532.4:p.Arg585= | |
| ENST00000377319.9:c.1620C>A (CACNB2) | ENSP00000366536.3:p.Arg540= | |
| ENST00000645287.2:c.1743C>A (CACNB2) | ENSP00000496203.1:p.Arg581= | |
| ENST00000282343.13:c.1815C>A (CACNB2) | ENSP00000282343.8:p.Arg605= | |
| ENST00000324631.13:c.1899C>A (CACNB2) MANE Select | ENSP00000320025.8:p.Arg633= | |
| ENST00000377315.5:c.1755C>A (CACNB2) | ENSP00000366532.4:p.Arg585= | |
| ENST00000377319.8:c.1620C>A (CACNB2) | ENSP00000366536.3:p.Arg540= | |
| ENST00000377329.10:c.1737C>A (CACNB2) MANE Plus Clinical | ENSP00000366546.4:p.Arg579= | |
| ENST00000377331.8:c.1524C>A (CACNB2) | ENSP00000366548.4:p.Arg508= | |
| ENST00000643096.2:c.1701C>A (CACNB2) | ENSP00000494209.2:p.Arg567= | |
| ENST00000645287.1:c.1743C>A (CACNB2) | ENSP00000496203.1:p.Arg581= | |
| ENST00000647168.2:c.*1040C>A (CACNB2) | ENSP00000495854.2:n.*1040C>A | |
| ENST00000650685.1:c.1641C>A (CACNB2) | ENSP00000498460.1:p.Arg547= | |
| ENST00000651330.1:c.*1173C>A (CACNB2) | ENSP00000498457.1:n.*1173C>A | |
| ENST00000651468.1:c.1456C>A (CACNB2) | ENSP00000498352.1:n.1456C>A | |
| ENST00000651928.1:c.*1138C>A (CACNB2) | ENSP00000499177.1:n.*1138C>A | |
| ENST00000652391.1:c.1719C>A (CACNB2) | ENSP00000498938.1:p.Arg573= | |
| ENST00000652478.1:c.*999C>A (CACNB2) | ENSP00000498812.1:n.*999C>A | |
| ENST00000282343.12:c.1815C>A (CACNB2) | ENSP00000282343.8:p.Arg605= | |
| ENST00000324631.11:c.1899C>A (CACNB2) | ENSP00000320025.7:p.Arg633= | |
| ENST00000352115.10:c.1827C>A (CACNB2) | ENSP00000344474.6:p.Arg609= | |
| ENST00000377315.4:c.1755C>A (CACNB2) | ENSP00000366532.4:p.Arg585= | |
| ENST00000377319.7:c.1620C>A (CACNB2) | ENSP00000366536.3:p.Arg540= | |
| ENST00000377328.5:c.1149C>A (CACNB2) | ENSP00000366545.1:p.Arg383= | |
| ENST00000377329.8:c.1737C>A (CACNB2) | ENSP00000366546.4:p.Arg579= | |
| ENST00000377331.6:c.1743C>A (CACNB2) | ENSP00000366548.2:p.Arg581= | |
| ENST00000396576.6:c.1734C>A (CACNB2) | ENSP00000379821.2:p.Arg578= | |
| ENST00000612134.4:c.1603C>A (CACNB2) | ENSP00000480563.1:n.1603C>A | |
| ENST00000612743.1:c.411C>A (CACNB2) | ENSP00000478676.1:p.Arg137= | |
| ENST00000615785.4:c.984C>A (CACNB2) | ENSP00000480260.1:p.Arg328= | |
| ENST00000617363.4:c.1662C>A (CACNB2) | ENSP00000479756.1:p.Arg554= | |
| NM_000724.3:c.1734C>A (CACNB2) | NP_000715.2:p.Arg578= | |
| NM_001167945.1:c.1701C>A (CACNB2) | NP_001161417.1:p.Arg567= | |
| NM_201570.2:c.1755C>A (CACNB2) | NP_963864.1:p.Arg585= | |
| NM_201571.3:c.1815C>A (CACNB2) | NP_963865.2:p.Arg605= | |
| NM_201572.3:c.1743C>A (CACNB2) | NP_963866.2:p.Arg581= | |
| NM_201590.2:c.1737C>A (CACNB2) | NP_963884.2:p.Arg579= | |
| NM_201593.2:c.1785C>A (CACNB2) | NP_963887.2:p.Arg595= | |
| NM_201596.2:c.1899C>A (CACNB2) | NP_963890.2:p.Arg633= | |
| NM_201597.2:c.1827C>A (CACNB2) | NP_963891.1:p.Arg609= | |
| XM_005252588.2:c.1641C>A (CACNB2) | XP_005252645.1:p.Arg547= | |
| XM_005252591.2:c.1059C>A (CACNB2) | XP_005252648.1:p.Arg353= | |
| XM_006717502.2:c.1719C>A (CACNB2) | XP_006717565.1:p.Arg573= | |
| XM_011519659.1:c.1665C>A (CACNB2) | XP_011517961.1:p.Arg555= | |
| XM_011519660.1:c.1620C>A (CACNB2) | XP_011517962.1:p.Arg540= | |
| NM_001330060.1:c.1620C>A (CACNB2) | NP_001316989.1:p.Arg540= | |
| XM_005252588.4:c.1641C>A (CACNB2) | XP_005252645.1:p.Arg547= | |
| XM_005252591.3:c.1059C>A (CACNB2) | XP_005252648.1:p.Arg353= | |
| XM_006717502.3:c.1719C>A (CACNB2) | XP_006717565.1:p.Arg573= | |
| XM_011519659.2:c.1665C>A (CACNB2) | XP_011517961.1:p.Arg555= | |
| XM_017016625.1:c.1059C>A (CACNB2) | XP_016872114.1:p.Arg353= | |
| XR_001747060.1:n.2423+2429G>T (NSUN6) | ||
| XR_001747198.1:n.2024C>A (CACNB2) | ||
| NM_000724.4:c.1734C>A (CACNB2) | NP_000715.2:p.Arg578= | |
| NM_001167945.2:c.1701C>A (CACNB2) | NP_001161417.1:p.Arg567= | |
| NM_001330060.2:c.1620C>A (CACNB2) | NP_001316989.1:p.Arg540= | |
| NM_201570.3:c.1755C>A (CACNB2) | NP_963864.1:p.Arg585= | |
| NM_201571.4:c.1815C>A (CACNB2) | NP_963865.2:p.Arg605= | |
| NM_201572.4:c.1743C>A (CACNB2) | NP_963866.2:p.Arg581= | |
| NM_201590.3:c.1737C>A (CACNB2) MANE Plus Clinical | NP_963884.2:p.Arg579= | |
| NM_201593.3:c.1785C>A (CACNB2) | NP_963887.2:p.Arg595= | |
| NM_201596.3:c.1899C>A (CACNB2) MANE Select | NP_963890.2:p.Arg633= | |
| NM_201597.3:c.1827C>A (CACNB2) | NP_963891.1:p.Arg609= |