Linked Data
ClinVar Variation Id:
190731
dbSNP Id:
rs202218948
ExAC:
10:18828366 G / A
gnomAD v2:
10-18828366-G-A
gnomAD v3:
10-18539437-G-A
gnomAD v4:
10-18539437-G-A
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.18539437G>A , CM000672.2:g.18539437G>A | GRCh38 |
| NC_000010.10:g.18828366G>A , CM000672.1:g.18828366G>A | GRCh37 |
| NC_000010.9:g.18868372G>A | NCBI36 |
| NG_016195.1:g.403761G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377315.6:c.1552G>A (CACNB2) | ENSP00000366532.4:p.Ala518Thr | |
| ENST00000377319.9:c.1417G>A (CACNB2) | ENSP00000366536.3:p.Ala473Thr | |
| ENST00000645287.2:c.1540G>A (CACNB2) | ENSP00000496203.1:p.Ala514Thr | |
| ENST00000282343.13:c.1612G>A (CACNB2) | ENSP00000282343.8:p.Ala538Thr | |
| ENST00000324631.13:c.1696G>A (CACNB2) MANE Select | ENSP00000320025.8:p.Ala566Thr | |
| ENST00000377315.5:c.1552G>A (CACNB2) | ENSP00000366532.4:p.Ala518Thr | |
| ENST00000377319.8:c.1417G>A (CACNB2) | ENSP00000366536.3:p.Ala473Thr | |
| ENST00000377329.10:c.1534G>A (CACNB2) MANE Plus Clinical | ENSP00000366546.4:p.Ala512Thr | |
| ENST00000377331.8:c.1321G>A (CACNB2) | ENSP00000366548.4:p.Ala441Thr | |
| ENST00000643096.2:c.1498G>A (CACNB2) | ENSP00000494209.2:p.Ala500Thr | |
| ENST00000645287.1:c.1540G>A (CACNB2) | ENSP00000496203.1:p.Ala514Thr | |
| ENST00000647168.2:c.*837G>A (CACNB2) | ENSP00000495854.2:n.*837G>A | |
| ENST00000650685.1:c.1438G>A (CACNB2) | ENSP00000498460.1:p.Ala480Thr | |
| ENST00000651330.1:c.*970G>A (CACNB2) | ENSP00000498457.1:n.*970G>A | |
| ENST00000651468.1:c.1253G>A (CACNB2) | ENSP00000498352.1:n.1253G>A | |
| ENST00000651928.1:c.*935G>A (CACNB2) | ENSP00000499177.1:n.*935G>A | |
| ENST00000652391.1:c.1516G>A (CACNB2) | ENSP00000498938.1:p.Ala506Thr | |
| ENST00000652478.1:c.*796G>A (CACNB2) | ENSP00000498812.1:n.*796G>A | |
| ENST00000282343.12:c.1612G>A (CACNB2) | ENSP00000282343.8:p.Ala538Thr | |
| ENST00000324631.11:c.1696G>A (CACNB2) | ENSP00000320025.7:p.Ala566Thr | |
| ENST00000352115.10:c.1624G>A (CACNB2) | ENSP00000344474.6:p.Ala542Thr | |
| ENST00000377315.4:c.1552G>A (CACNB2) | ENSP00000366532.4:p.Ala518Thr | |
| ENST00000377319.7:c.1417G>A (CACNB2) | ENSP00000366536.3:p.Ala473Thr | |
| ENST00000377328.5:c.946G>A (CACNB2) | ENSP00000366545.1:p.Ala316Thr | |
| ENST00000377329.8:c.1534G>A (CACNB2) | ENSP00000366546.4:p.Ala512Thr | |
| ENST00000377331.6:c.1540G>A (CACNB2) | ENSP00000366548.2:p.Ala514Thr | |
| ENST00000396576.6:c.1531G>A (CACNB2) | ENSP00000379821.2:p.Ala511Thr | |
| ENST00000612134.4:c.1400G>A (CACNB2) | ENSP00000480563.1:n.1400G>A | |
| ENST00000612743.1:c.208G>A (CACNB2) | ENSP00000478676.1:p.Ala70Thr | |
| ENST00000615785.4:c.781G>A (CACNB2) | ENSP00000480260.1:p.Ala261Thr | |
| ENST00000617363.4:c.1459G>A (CACNB2) | ENSP00000479756.1:p.Ala487Thr | |
| NM_000724.3:c.1531G>A (CACNB2) | NP_000715.2:p.Ala511Thr | |
| NM_001167945.1:c.1498G>A (CACNB2) | NP_001161417.1:p.Ala500Thr | |
| NM_201570.2:c.1552G>A (CACNB2) | NP_963864.1:p.Ala518Thr | |
| NM_201571.3:c.1612G>A (CACNB2) | NP_963865.2:p.Ala538Thr | |
| NM_201572.3:c.1540G>A (CACNB2) | NP_963866.2:p.Ala514Thr | |
| NM_201590.2:c.1534G>A (CACNB2) | NP_963884.2:p.Ala512Thr | |
| NM_201593.2:c.1582G>A (CACNB2) | NP_963887.2:p.Ala528Thr | |
| NM_201596.2:c.1696G>A (CACNB2) | NP_963890.2:p.Ala566Thr | |
| NM_201597.2:c.1624G>A (CACNB2) | NP_963891.1:p.Ala542Thr | |
| XM_005252588.2:c.1438G>A (CACNB2) | XP_005252645.1:p.Ala480Thr | |
| XM_005252591.2:c.856G>A (CACNB2) | XP_005252648.1:p.Ala286Thr | |
| XM_006717502.2:c.1516G>A (CACNB2) | XP_006717565.1:p.Ala506Thr | |
| XM_011519659.1:c.1462G>A (CACNB2) | XP_011517961.1:p.Ala488Thr | |
| XM_011519660.1:c.1417G>A (CACNB2) | XP_011517962.1:p.Ala473Thr | |
| NM_001330060.1:c.1417G>A (CACNB2) | NP_001316989.1:p.Ala473Thr | |
| XM_005252588.4:c.1438G>A (CACNB2) | XP_005252645.1:p.Ala480Thr | |
| XM_005252591.3:c.856G>A (CACNB2) | XP_005252648.1:p.Ala286Thr | |
| XM_006717502.3:c.1516G>A (CACNB2) | XP_006717565.1:p.Ala506Thr | |
| XM_011519659.2:c.1462G>A (CACNB2) | XP_011517961.1:p.Ala488Thr | |
| XM_017016625.1:c.856G>A (CACNB2) | XP_016872114.1:p.Ala286Thr | |
| XR_001747060.1:n.2423+2632C>T (NSUN6) | ||
| XR_001747198.1:n.1821G>A (CACNB2) | ||
| NM_000724.4:c.1531G>A (CACNB2) | NP_000715.2:p.Ala511Thr | |
| NM_001167945.2:c.1498G>A (CACNB2) | NP_001161417.1:p.Ala500Thr | |
| NM_001330060.2:c.1417G>A (CACNB2) | NP_001316989.1:p.Ala473Thr | |
| NM_201570.3:c.1552G>A (CACNB2) | NP_963864.1:p.Ala518Thr | |
| NM_201571.4:c.1612G>A (CACNB2) | NP_963865.2:p.Ala538Thr | |
| NM_201572.4:c.1540G>A (CACNB2) | NP_963866.2:p.Ala514Thr | |
| NM_201590.3:c.1534G>A (CACNB2) MANE Plus Clinical | NP_963884.2:p.Ala512Thr | |
| NM_201593.3:c.1582G>A (CACNB2) | NP_963887.2:p.Ala528Thr | |
| NM_201596.3:c.1696G>A (CACNB2) MANE Select | NP_963890.2:p.Ala566Thr | |
| NM_201597.3:c.1624G>A (CACNB2) | NP_963891.1:p.Ala542Thr |