Linked Data
dbSNP Id:
rs532096958
ExAC:
10:18828421 C / A
gnomAD v2:
10-18828421-C-A
gnomAD v3:
10-18539492-C-A
gnomAD v4:
10-18539492-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.18539492C>A , CM000672.2:g.18539492C>A | GRCh38 |
| NC_000010.10:g.18828421C>A , CM000672.1:g.18828421C>A | GRCh37 |
| NC_000010.9:g.18868427C>A | NCBI36 |
| NG_016195.1:g.403816C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377315.6:c.1607C>A (CACNB2) | ENSP00000366532.4:p.Ser536Ter | |
| ENST00000377319.9:c.1472C>A (CACNB2) | ENSP00000366536.3:p.Ser491Ter | |
| ENST00000645287.2:c.1595C>A (CACNB2) | ENSP00000496203.1:p.Ser532Ter | |
| ENST00000282343.13:c.1667C>A (CACNB2) | ENSP00000282343.8:p.Ser556Ter | |
| ENST00000324631.13:c.1751C>A (CACNB2) MANE Select | ENSP00000320025.8:p.Ser584Ter | |
| ENST00000377315.5:c.1607C>A (CACNB2) | ENSP00000366532.4:p.Ser536Ter | |
| ENST00000377319.8:c.1472C>A (CACNB2) | ENSP00000366536.3:p.Ser491Ter | |
| ENST00000377329.10:c.1589C>A (CACNB2) MANE Plus Clinical | ENSP00000366546.4:p.Ser530Ter | |
| ENST00000377331.8:c.1376C>A (CACNB2) | ENSP00000366548.4:p.Ser459Ter | |
| ENST00000643096.2:c.1553C>A (CACNB2) | ENSP00000494209.2:p.Ser518Ter | |
| ENST00000645287.1:c.1595C>A (CACNB2) | ENSP00000496203.1:p.Ser532Ter | |
| ENST00000647168.2:c.*892C>A (CACNB2) | ENSP00000495854.2:n.*892C>A | |
| ENST00000650685.1:c.1493C>A (CACNB2) | ENSP00000498460.1:p.Ser498Ter | |
| ENST00000651330.1:c.*1025C>A (CACNB2) | ENSP00000498457.1:n.*1025C>A | |
| ENST00000651468.1:c.1308C>A (CACNB2) | ENSP00000498352.1:n.1308C>A | |
| ENST00000651928.1:c.*990C>A (CACNB2) | ENSP00000499177.1:n.*990C>A | |
| ENST00000652391.1:c.1571C>A (CACNB2) | ENSP00000498938.1:p.Ser524Ter | |
| ENST00000652478.1:c.*851C>A (CACNB2) | ENSP00000498812.1:n.*851C>A | |
| ENST00000282343.12:c.1667C>A (CACNB2) | ENSP00000282343.8:p.Ser556Ter | |
| ENST00000324631.11:c.1751C>A (CACNB2) | ENSP00000320025.7:p.Ser584Ter | |
| ENST00000352115.10:c.1679C>A (CACNB2) | ENSP00000344474.6:p.Ser560Ter | |
| ENST00000377315.4:c.1607C>A (CACNB2) | ENSP00000366532.4:p.Ser536Ter | |
| ENST00000377319.7:c.1472C>A (CACNB2) | ENSP00000366536.3:p.Ser491Ter | |
| ENST00000377328.5:c.1001C>A (CACNB2) | ENSP00000366545.1:p.Ser334Ter | |
| ENST00000377329.8:c.1589C>A (CACNB2) | ENSP00000366546.4:p.Ser530Ter | |
| ENST00000377331.6:c.1595C>A (CACNB2) | ENSP00000366548.2:p.Ser532Ter | |
| ENST00000396576.6:c.1586C>A (CACNB2) | ENSP00000379821.2:p.Ser529Ter | |
| ENST00000612134.4:c.1455C>A (CACNB2) | ENSP00000480563.1:n.1455C>A | |
| ENST00000612743.1:c.263C>A (CACNB2) | ENSP00000478676.1:p.Ser88Ter | |
| ENST00000615785.4:c.836C>A (CACNB2) | ENSP00000480260.1:p.Ser279Ter | |
| ENST00000617363.4:c.1514C>A (CACNB2) | ENSP00000479756.1:p.Ser505Ter | |
| NM_000724.3:c.1586C>A (CACNB2) | NP_000715.2:p.Ser529Ter | |
| NM_001167945.1:c.1553C>A (CACNB2) | NP_001161417.1:p.Ser518Ter | |
| NM_201570.2:c.1607C>A (CACNB2) | NP_963864.1:p.Ser536Ter | |
| NM_201571.3:c.1667C>A (CACNB2) | NP_963865.2:p.Ser556Ter | |
| NM_201572.3:c.1595C>A (CACNB2) | NP_963866.2:p.Ser532Ter | |
| NM_201590.2:c.1589C>A (CACNB2) | NP_963884.2:p.Ser530Ter | |
| NM_201593.2:c.1637C>A (CACNB2) | NP_963887.2:p.Ser546Ter | |
| NM_201596.2:c.1751C>A (CACNB2) | NP_963890.2:p.Ser584Ter | |
| NM_201597.2:c.1679C>A (CACNB2) | NP_963891.1:p.Ser560Ter | |
| XM_005252588.2:c.1493C>A (CACNB2) | XP_005252645.1:p.Ser498Ter | |
| XM_005252591.2:c.911C>A (CACNB2) | XP_005252648.1:p.Ser304Ter | |
| XM_006717502.2:c.1571C>A (CACNB2) | XP_006717565.1:p.Ser524Ter | |
| XM_011519659.1:c.1517C>A (CACNB2) | XP_011517961.1:p.Ser506Ter | |
| XM_011519660.1:c.1472C>A (CACNB2) | XP_011517962.1:p.Ser491Ter | |
| NM_001330060.1:c.1472C>A (CACNB2) | NP_001316989.1:p.Ser491Ter | |
| XM_005252588.4:c.1493C>A (CACNB2) | XP_005252645.1:p.Ser498Ter | |
| XM_005252591.3:c.911C>A (CACNB2) | XP_005252648.1:p.Ser304Ter | |
| XM_006717502.3:c.1571C>A (CACNB2) | XP_006717565.1:p.Ser524Ter | |
| XM_011519659.2:c.1517C>A (CACNB2) | XP_011517961.1:p.Ser506Ter | |
| XM_017016625.1:c.911C>A (CACNB2) | XP_016872114.1:p.Ser304Ter | |
| XR_001747060.1:n.2423+2577G>T (NSUN6) | ||
| XR_001747198.1:n.1876C>A (CACNB2) | ||
| NM_000724.4:c.1586C>A (CACNB2) | NP_000715.2:p.Ser529Ter | |
| NM_001167945.2:c.1553C>A (CACNB2) | NP_001161417.1:p.Ser518Ter | |
| NM_001330060.2:c.1472C>A (CACNB2) | NP_001316989.1:p.Ser491Ter | |
| NM_201570.3:c.1607C>A (CACNB2) | NP_963864.1:p.Ser536Ter | |
| NM_201571.4:c.1667C>A (CACNB2) | NP_963865.2:p.Ser556Ter | |
| NM_201572.4:c.1595C>A (CACNB2) | NP_963866.2:p.Ser532Ter | |
| NM_201590.3:c.1589C>A (CACNB2) MANE Plus Clinical | NP_963884.2:p.Ser530Ter | |
| NM_201593.3:c.1637C>A (CACNB2) | NP_963887.2:p.Ser546Ter | |
| NM_201596.3:c.1751C>A (CACNB2) MANE Select | NP_963890.2:p.Ser584Ter | |
| NM_201597.3:c.1679C>A (CACNB2) | NP_963891.1:p.Ser560Ter |