Linked Data
ClinVar Variation Id:
971535
dbSNP Id:
rs370475450
ExAC:
10:18828406 T / G
gnomAD v2:
10-18828406-T-G
gnomAD v3:
10-18539477-T-G
gnomAD v4:
10-18539477-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.18539477T>G , CM000672.2:g.18539477T>G | GRCh38 |
| NC_000010.10:g.18828406T>G , CM000672.1:g.18828406T>G | GRCh37 |
| NC_000010.9:g.18868412T>G | NCBI36 |
| NG_016195.1:g.403801T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377315.6:c.1592T>G (CACNB2) | ENSP00000366532.4:p.Val531Gly | |
| ENST00000377319.9:c.1457T>G (CACNB2) | ENSP00000366536.3:p.Val486Gly | |
| ENST00000645287.2:c.1580T>G (CACNB2) | ENSP00000496203.1:p.Val527Gly | |
| ENST00000282343.13:c.1652T>G (CACNB2) | ENSP00000282343.8:p.Val551Gly | |
| ENST00000324631.13:c.1736T>G (CACNB2) MANE Select | ENSP00000320025.8:p.Val579Gly | |
| ENST00000377315.5:c.1592T>G (CACNB2) | ENSP00000366532.4:p.Val531Gly | |
| ENST00000377319.8:c.1457T>G (CACNB2) | ENSP00000366536.3:p.Val486Gly | |
| ENST00000377329.10:c.1574T>G (CACNB2) MANE Plus Clinical | ENSP00000366546.4:p.Val525Gly | |
| ENST00000377331.8:c.1361T>G (CACNB2) | ENSP00000366548.4:p.Val454Gly | |
| ENST00000643096.2:c.1538T>G (CACNB2) | ENSP00000494209.2:p.Val513Gly | |
| ENST00000645287.1:c.1580T>G (CACNB2) | ENSP00000496203.1:p.Val527Gly | |
| ENST00000647168.2:c.*877T>G (CACNB2) | ENSP00000495854.2:n.*877T>G | |
| ENST00000650685.1:c.1478T>G (CACNB2) | ENSP00000498460.1:p.Val493Gly | |
| ENST00000651330.1:c.*1010T>G (CACNB2) | ENSP00000498457.1:n.*1010T>G | |
| ENST00000651468.1:c.1293T>G (CACNB2) | ENSP00000498352.1:n.1293T>G | |
| ENST00000651928.1:c.*975T>G (CACNB2) | ENSP00000499177.1:n.*975T>G | |
| ENST00000652391.1:c.1556T>G (CACNB2) | ENSP00000498938.1:p.Val519Gly | |
| ENST00000652478.1:c.*836T>G (CACNB2) | ENSP00000498812.1:n.*836T>G | |
| ENST00000282343.12:c.1652T>G (CACNB2) | ENSP00000282343.8:p.Val551Gly | |
| ENST00000324631.11:c.1736T>G (CACNB2) | ENSP00000320025.7:p.Val579Gly | |
| ENST00000352115.10:c.1664T>G (CACNB2) | ENSP00000344474.6:p.Val555Gly | |
| ENST00000377315.4:c.1592T>G (CACNB2) | ENSP00000366532.4:p.Val531Gly | |
| ENST00000377319.7:c.1457T>G (CACNB2) | ENSP00000366536.3:p.Val486Gly | |
| ENST00000377328.5:c.986T>G (CACNB2) | ENSP00000366545.1:p.Val329Gly | |
| ENST00000377329.8:c.1574T>G (CACNB2) | ENSP00000366546.4:p.Val525Gly | |
| ENST00000377331.6:c.1580T>G (CACNB2) | ENSP00000366548.2:p.Val527Gly | |
| ENST00000396576.6:c.1571T>G (CACNB2) | ENSP00000379821.2:p.Val524Gly | |
| ENST00000612134.4:c.1440T>G (CACNB2) | ENSP00000480563.1:n.1440T>G | |
| ENST00000612743.1:c.248T>G (CACNB2) | ENSP00000478676.1:p.Val83Gly | |
| ENST00000615785.4:c.821T>G (CACNB2) | ENSP00000480260.1:p.Val274Gly | |
| ENST00000617363.4:c.1499T>G (CACNB2) | ENSP00000479756.1:p.Val500Gly | |
| NM_000724.3:c.1571T>G (CACNB2) | NP_000715.2:p.Val524Gly | |
| NM_001167945.1:c.1538T>G (CACNB2) | NP_001161417.1:p.Val513Gly | |
| NM_201570.2:c.1592T>G (CACNB2) | NP_963864.1:p.Val531Gly | |
| NM_201571.3:c.1652T>G (CACNB2) | NP_963865.2:p.Val551Gly | |
| NM_201572.3:c.1580T>G (CACNB2) | NP_963866.2:p.Val527Gly | |
| NM_201590.2:c.1574T>G (CACNB2) | NP_963884.2:p.Val525Gly | |
| NM_201593.2:c.1622T>G (CACNB2) | NP_963887.2:p.Val541Gly | |
| NM_201596.2:c.1736T>G (CACNB2) | NP_963890.2:p.Val579Gly | |
| NM_201597.2:c.1664T>G (CACNB2) | NP_963891.1:p.Val555Gly | |
| XM_005252588.2:c.1478T>G (CACNB2) | XP_005252645.1:p.Val493Gly | |
| XM_005252591.2:c.896T>G (CACNB2) | XP_005252648.1:p.Val299Gly | |
| XM_006717502.2:c.1556T>G (CACNB2) | XP_006717565.1:p.Val519Gly | |
| XM_011519659.1:c.1502T>G (CACNB2) | XP_011517961.1:p.Val501Gly | |
| XM_011519660.1:c.1457T>G (CACNB2) | XP_011517962.1:p.Val486Gly | |
| NM_001330060.1:c.1457T>G (CACNB2) | NP_001316989.1:p.Val486Gly | |
| XM_005252588.4:c.1478T>G (CACNB2) | XP_005252645.1:p.Val493Gly | |
| XM_005252591.3:c.896T>G (CACNB2) | XP_005252648.1:p.Val299Gly | |
| XM_006717502.3:c.1556T>G (CACNB2) | XP_006717565.1:p.Val519Gly | |
| XM_011519659.2:c.1502T>G (CACNB2) | XP_011517961.1:p.Val501Gly | |
| XM_017016625.1:c.896T>G (CACNB2) | XP_016872114.1:p.Val299Gly | |
| XR_001747060.1:n.2423+2592A>C (NSUN6) | ||
| XR_001747198.1:n.1861T>G (CACNB2) | ||
| NM_000724.4:c.1571T>G (CACNB2) | NP_000715.2:p.Val524Gly | |
| NM_001167945.2:c.1538T>G (CACNB2) | NP_001161417.1:p.Val513Gly | |
| NM_001330060.2:c.1457T>G (CACNB2) | NP_001316989.1:p.Val486Gly | |
| NM_201570.3:c.1592T>G (CACNB2) | NP_963864.1:p.Val531Gly | |
| NM_201571.4:c.1652T>G (CACNB2) | NP_963865.2:p.Val551Gly | |
| NM_201572.4:c.1580T>G (CACNB2) | NP_963866.2:p.Val527Gly | |
| NM_201590.3:c.1574T>G (CACNB2) MANE Plus Clinical | NP_963884.2:p.Val525Gly | |
| NM_201593.3:c.1622T>G (CACNB2) | NP_963887.2:p.Val541Gly | |
| NM_201596.3:c.1736T>G (CACNB2) MANE Select | NP_963890.2:p.Val579Gly | |
| NM_201597.3:c.1664T>G (CACNB2) | NP_963891.1:p.Val555Gly |