Linked Data
ClinVar Variation Id:
1390567
ClinVar RCV Id:
RCV001891065
dbSNP Id:
rs1412805204
gnomAD v3:
10-18539495-A-T
gnomAD v4:
10-18539495-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.18539495A>T , CM000672.2:g.18539495A>T | GRCh38 |
| NC_000010.10:g.18828424A>T , CM000672.1:g.18828424A>T | GRCh37 |
| NC_000010.9:g.18868430A>T | NCBI36 |
| NG_016195.1:g.403819A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377315.6:c.1610A>T (CACNB2) | ENSP00000366532.4:p.His537Leu | |
| ENST00000377319.9:c.1475A>T (CACNB2) | ENSP00000366536.3:p.His492Leu | |
| ENST00000645287.2:c.1598A>T (CACNB2) | ENSP00000496203.1:p.His533Leu | |
| ENST00000282343.13:c.1670A>T (CACNB2) | ENSP00000282343.8:p.His557Leu | |
| ENST00000324631.13:c.1754A>T (CACNB2) MANE Select | ENSP00000320025.8:p.His585Leu | |
| ENST00000377315.5:c.1610A>T (CACNB2) | ENSP00000366532.4:p.His537Leu | |
| ENST00000377319.8:c.1475A>T (CACNB2) | ENSP00000366536.3:p.His492Leu | |
| ENST00000377329.10:c.1592A>T (CACNB2) MANE Plus Clinical | ENSP00000366546.4:p.His531Leu | |
| ENST00000377331.8:c.1379A>T (CACNB2) | ENSP00000366548.4:p.His460Leu | |
| ENST00000643096.2:c.1556A>T (CACNB2) | ENSP00000494209.2:p.His519Leu | |
| ENST00000645287.1:c.1598A>T (CACNB2) | ENSP00000496203.1:p.His533Leu | |
| ENST00000647168.2:c.*895A>T (CACNB2) | ENSP00000495854.2:n.*895A>T | |
| ENST00000650685.1:c.1496A>T (CACNB2) | ENSP00000498460.1:p.His499Leu | |
| ENST00000651330.1:c.*1028A>T (CACNB2) | ENSP00000498457.1:n.*1028A>T | |
| ENST00000651468.1:c.1311A>T (CACNB2) | ENSP00000498352.1:n.1311A>T | |
| ENST00000651928.1:c.*993A>T (CACNB2) | ENSP00000499177.1:n.*993A>T | |
| ENST00000652391.1:c.1574A>T (CACNB2) | ENSP00000498938.1:p.His525Leu | |
| ENST00000652478.1:c.*854A>T (CACNB2) | ENSP00000498812.1:n.*854A>T | |
| ENST00000282343.12:c.1670A>T (CACNB2) | ENSP00000282343.8:p.His557Leu | |
| ENST00000324631.11:c.1754A>T (CACNB2) | ENSP00000320025.7:p.His585Leu | |
| ENST00000352115.10:c.1682A>T (CACNB2) | ENSP00000344474.6:p.His561Leu | |
| ENST00000377315.4:c.1610A>T (CACNB2) | ENSP00000366532.4:p.His537Leu | |
| ENST00000377319.7:c.1475A>T (CACNB2) | ENSP00000366536.3:p.His492Leu | |
| ENST00000377328.5:c.1004A>T (CACNB2) | ENSP00000366545.1:p.His335Leu | |
| ENST00000377329.8:c.1592A>T (CACNB2) | ENSP00000366546.4:p.His531Leu | |
| ENST00000377331.6:c.1598A>T (CACNB2) | ENSP00000366548.2:p.His533Leu | |
| ENST00000396576.6:c.1589A>T (CACNB2) | ENSP00000379821.2:p.His530Leu | |
| ENST00000612134.4:c.1458A>T (CACNB2) | ENSP00000480563.1:n.1458A>T | |
| ENST00000612743.1:c.266A>T (CACNB2) | ENSP00000478676.1:p.His89Leu | |
| ENST00000615785.4:c.839A>T (CACNB2) | ENSP00000480260.1:p.His280Leu | |
| ENST00000617363.4:c.1517A>T (CACNB2) | ENSP00000479756.1:p.His506Leu | |
| NM_000724.3:c.1589A>T (CACNB2) | NP_000715.2:p.His530Leu | |
| NM_001167945.1:c.1556A>T (CACNB2) | NP_001161417.1:p.His519Leu | |
| NM_201570.2:c.1610A>T (CACNB2) | NP_963864.1:p.His537Leu | |
| NM_201571.3:c.1670A>T (CACNB2) | NP_963865.2:p.His557Leu | |
| NM_201572.3:c.1598A>T (CACNB2) | NP_963866.2:p.His533Leu | |
| NM_201590.2:c.1592A>T (CACNB2) | NP_963884.2:p.His531Leu | |
| NM_201593.2:c.1640A>T (CACNB2) | NP_963887.2:p.His547Leu | |
| NM_201596.2:c.1754A>T (CACNB2) | NP_963890.2:p.His585Leu | |
| NM_201597.2:c.1682A>T (CACNB2) | NP_963891.1:p.His561Leu | |
| XM_005252588.2:c.1496A>T (CACNB2) | XP_005252645.1:p.His499Leu | |
| XM_005252591.2:c.914A>T (CACNB2) | XP_005252648.1:p.His305Leu | |
| XM_006717502.2:c.1574A>T (CACNB2) | XP_006717565.1:p.His525Leu | |
| XM_011519659.1:c.1520A>T (CACNB2) | XP_011517961.1:p.His507Leu | |
| XM_011519660.1:c.1475A>T (CACNB2) | XP_011517962.1:p.His492Leu | |
| NM_001330060.1:c.1475A>T (CACNB2) | NP_001316989.1:p.His492Leu | |
| XM_005252588.4:c.1496A>T (CACNB2) | XP_005252645.1:p.His499Leu | |
| XM_005252591.3:c.914A>T (CACNB2) | XP_005252648.1:p.His305Leu | |
| XM_006717502.3:c.1574A>T (CACNB2) | XP_006717565.1:p.His525Leu | |
| XM_011519659.2:c.1520A>T (CACNB2) | XP_011517961.1:p.His507Leu | |
| XM_017016625.1:c.914A>T (CACNB2) | XP_016872114.1:p.His305Leu | |
| XR_001747060.1:n.2423+2574T>A (NSUN6) | ||
| XR_001747198.1:n.1879A>T (CACNB2) | ||
| NM_000724.4:c.1589A>T (CACNB2) | NP_000715.2:p.His530Leu | |
| NM_001167945.2:c.1556A>T (CACNB2) | NP_001161417.1:p.His519Leu | |
| NM_001330060.2:c.1475A>T (CACNB2) | NP_001316989.1:p.His492Leu | |
| NM_201570.3:c.1610A>T (CACNB2) | NP_963864.1:p.His537Leu | |
| NM_201571.4:c.1670A>T (CACNB2) | NP_963865.2:p.His557Leu | |
| NM_201572.4:c.1598A>T (CACNB2) | NP_963866.2:p.His533Leu | |
| NM_201590.3:c.1592A>T (CACNB2) MANE Plus Clinical | NP_963884.2:p.His531Leu | |
| NM_201593.3:c.1640A>T (CACNB2) | NP_963887.2:p.His547Leu | |
| NM_201596.3:c.1754A>T (CACNB2) MANE Select | NP_963890.2:p.His585Leu | |
| NM_201597.3:c.1682A>T (CACNB2) | NP_963891.1:p.His561Leu |