Linked Data
ClinVar Variation Id:
190717
dbSNP Id:
rs142639223
ExAC:
10:18828372 G / A
gnomAD v2:
10-18828372-G-A
gnomAD v3:
10-18539443-G-A
gnomAD v4:
10-18539443-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.18539443G>A , CM000672.2:g.18539443G>A | GRCh38 |
| NC_000010.10:g.18828372G>A , CM000672.1:g.18828372G>A | GRCh37 |
| NC_000010.9:g.18868378G>A | NCBI36 |
| NG_016195.1:g.403767G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377315.6:c.1558G>A (CACNB2) | ENSP00000366532.4:p.Val520Ile | |
| ENST00000377319.9:c.1423G>A (CACNB2) | ENSP00000366536.3:p.Val475Ile | |
| ENST00000645287.2:c.1546G>A (CACNB2) | ENSP00000496203.1:p.Val516Ile | |
| ENST00000282343.13:c.1618G>A (CACNB2) | ENSP00000282343.8:p.Val540Ile | |
| ENST00000324631.13:c.1702G>A (CACNB2) MANE Select | ENSP00000320025.8:p.Val568Ile | |
| ENST00000377315.5:c.1558G>A (CACNB2) | ENSP00000366532.4:p.Val520Ile | |
| ENST00000377319.8:c.1423G>A (CACNB2) | ENSP00000366536.3:p.Val475Ile | |
| ENST00000377329.10:c.1540G>A (CACNB2) MANE Plus Clinical | ENSP00000366546.4:p.Val514Ile | |
| ENST00000377331.8:c.1327G>A (CACNB2) | ENSP00000366548.4:p.Val443Ile | |
| ENST00000643096.2:c.1504G>A (CACNB2) | ENSP00000494209.2:p.Val502Ile | |
| ENST00000645287.1:c.1546G>A (CACNB2) | ENSP00000496203.1:p.Val516Ile | |
| ENST00000647168.2:c.*843G>A (CACNB2) | ENSP00000495854.2:n.*843G>A | |
| ENST00000650685.1:c.1444G>A (CACNB2) | ENSP00000498460.1:p.Val482Ile | |
| ENST00000651330.1:c.*976G>A (CACNB2) | ENSP00000498457.1:n.*976G>A | |
| ENST00000651468.1:c.1259G>A (CACNB2) | ENSP00000498352.1:n.1259G>A | |
| ENST00000651928.1:c.*941G>A (CACNB2) | ENSP00000499177.1:n.*941G>A | |
| ENST00000652391.1:c.1522G>A (CACNB2) | ENSP00000498938.1:p.Val508Ile | |
| ENST00000652478.1:c.*802G>A (CACNB2) | ENSP00000498812.1:n.*802G>A | |
| ENST00000282343.12:c.1618G>A (CACNB2) | ENSP00000282343.8:p.Val540Ile | |
| ENST00000324631.11:c.1702G>A (CACNB2) | ENSP00000320025.7:p.Val568Ile | |
| ENST00000352115.10:c.1630G>A (CACNB2) | ENSP00000344474.6:p.Val544Ile | |
| ENST00000377315.4:c.1558G>A (CACNB2) | ENSP00000366532.4:p.Val520Ile | |
| ENST00000377319.7:c.1423G>A (CACNB2) | ENSP00000366536.3:p.Val475Ile | |
| ENST00000377328.5:c.952G>A (CACNB2) | ENSP00000366545.1:p.Val318Ile | |
| ENST00000377329.8:c.1540G>A (CACNB2) | ENSP00000366546.4:p.Val514Ile | |
| ENST00000377331.6:c.1546G>A (CACNB2) | ENSP00000366548.2:p.Val516Ile | |
| ENST00000396576.6:c.1537G>A (CACNB2) | ENSP00000379821.2:p.Val513Ile | |
| ENST00000612134.4:c.1406G>A (CACNB2) | ENSP00000480563.1:n.1406G>A | |
| ENST00000612743.1:c.214G>A (CACNB2) | ENSP00000478676.1:p.Val72Ile | |
| ENST00000615785.4:c.787G>A (CACNB2) | ENSP00000480260.1:p.Val263Ile | |
| ENST00000617363.4:c.1465G>A (CACNB2) | ENSP00000479756.1:p.Val489Ile | |
| NM_000724.3:c.1537G>A (CACNB2) | NP_000715.2:p.Val513Ile | |
| NM_001167945.1:c.1504G>A (CACNB2) | NP_001161417.1:p.Val502Ile | |
| NM_201570.2:c.1558G>A (CACNB2) | NP_963864.1:p.Val520Ile | |
| NM_201571.3:c.1618G>A (CACNB2) | NP_963865.2:p.Val540Ile | |
| NM_201572.3:c.1546G>A (CACNB2) | NP_963866.2:p.Val516Ile | |
| NM_201590.2:c.1540G>A (CACNB2) | NP_963884.2:p.Val514Ile | |
| NM_201593.2:c.1588G>A (CACNB2) | NP_963887.2:p.Val530Ile | |
| NM_201596.2:c.1702G>A (CACNB2) | NP_963890.2:p.Val568Ile | |
| NM_201597.2:c.1630G>A (CACNB2) | NP_963891.1:p.Val544Ile | |
| XM_005252588.2:c.1444G>A (CACNB2) | XP_005252645.1:p.Val482Ile | |
| XM_005252591.2:c.862G>A (CACNB2) | XP_005252648.1:p.Val288Ile | |
| XM_006717502.2:c.1522G>A (CACNB2) | XP_006717565.1:p.Val508Ile | |
| XM_011519659.1:c.1468G>A (CACNB2) | XP_011517961.1:p.Val490Ile | |
| XM_011519660.1:c.1423G>A (CACNB2) | XP_011517962.1:p.Val475Ile | |
| NM_001330060.1:c.1423G>A (CACNB2) | NP_001316989.1:p.Val475Ile | |
| XM_005252588.4:c.1444G>A (CACNB2) | XP_005252645.1:p.Val482Ile | |
| XM_005252591.3:c.862G>A (CACNB2) | XP_005252648.1:p.Val288Ile | |
| XM_006717502.3:c.1522G>A (CACNB2) | XP_006717565.1:p.Val508Ile | |
| XM_011519659.2:c.1468G>A (CACNB2) | XP_011517961.1:p.Val490Ile | |
| XM_017016625.1:c.862G>A (CACNB2) | XP_016872114.1:p.Val288Ile | |
| XR_001747060.1:n.2423+2626C>T (NSUN6) | ||
| XR_001747198.1:n.1827G>A (CACNB2) | ||
| NM_000724.4:c.1537G>A (CACNB2) | NP_000715.2:p.Val513Ile | |
| NM_001167945.2:c.1504G>A (CACNB2) | NP_001161417.1:p.Val502Ile | |
| NM_001330060.2:c.1423G>A (CACNB2) | NP_001316989.1:p.Val475Ile | |
| NM_201570.3:c.1558G>A (CACNB2) | NP_963864.1:p.Val520Ile | |
| NM_201571.4:c.1618G>A (CACNB2) | NP_963865.2:p.Val540Ile | |
| NM_201572.4:c.1546G>A (CACNB2) | NP_963866.2:p.Val516Ile | |
| NM_201590.3:c.1540G>A (CACNB2) MANE Plus Clinical | NP_963884.2:p.Val514Ile | |
| NM_201593.3:c.1588G>A (CACNB2) | NP_963887.2:p.Val530Ile | |
| NM_201596.3:c.1702G>A (CACNB2) MANE Select | NP_963890.2:p.Val568Ile | |
| NM_201597.3:c.1630G>A (CACNB2) | NP_963891.1:p.Val544Ile |