Canonical Allele Identifier: CA5430147
Gene: CACNB2 HGNC NCBI
NSUN6 HGNC NCBI

Linked Data

dbSNP Id: rs544535665

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.18539476G>C , CM000672.2:g.18539476G>C GRCh38
NC_000010.10:g.18828405G>C , CM000672.1:g.18828405G>C GRCh37
NC_000010.9:g.18868411G>C NCBI36
NG_016195.1:g.403800G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000377315.6:c.1591G>C (CACNB2) ENSP00000366532.4:p.Val531Leu
ENST00000377319.9:c.1456G>C (CACNB2) ENSP00000366536.3:p.Val486Leu
ENST00000645287.2:c.1579G>C (CACNB2) ENSP00000496203.1:p.Val527Leu
ENST00000282343.13:c.1651G>C (CACNB2) ENSP00000282343.8:p.Val551Leu
ENST00000324631.13:c.1735G>C (CACNB2) MANE Select ENSP00000320025.8:p.Val579Leu
ENST00000377315.5:c.1591G>C (CACNB2) ENSP00000366532.4:p.Val531Leu
ENST00000377319.8:c.1456G>C (CACNB2) ENSP00000366536.3:p.Val486Leu
ENST00000377329.10:c.1573G>C (CACNB2) MANE Plus Clinical ENSP00000366546.4:p.Val525Leu
ENST00000377331.8:c.1360G>C (CACNB2) ENSP00000366548.4:p.Val454Leu
ENST00000643096.2:c.1537G>C (CACNB2) ENSP00000494209.2:p.Val513Leu
ENST00000645287.1:c.1579G>C (CACNB2) ENSP00000496203.1:p.Val527Leu
ENST00000647168.2:c.*876G>C (CACNB2) ENSP00000495854.2:n.*876G>C
ENST00000650685.1:c.1477G>C (CACNB2) ENSP00000498460.1:p.Val493Leu
ENST00000651330.1:c.*1009G>C (CACNB2) ENSP00000498457.1:n.*1009G>C
ENST00000651468.1:c.1292G>C (CACNB2) ENSP00000498352.1:n.1292G>C
ENST00000651928.1:c.*974G>C (CACNB2) ENSP00000499177.1:n.*974G>C
ENST00000652391.1:c.1555G>C (CACNB2) ENSP00000498938.1:p.Val519Leu
ENST00000652478.1:c.*835G>C (CACNB2) ENSP00000498812.1:n.*835G>C
ENST00000282343.12:c.1651G>C (CACNB2) ENSP00000282343.8:p.Val551Leu
ENST00000324631.11:c.1735G>C (CACNB2) ENSP00000320025.7:p.Val579Leu
ENST00000352115.10:c.1663G>C (CACNB2) ENSP00000344474.6:p.Val555Leu
ENST00000377315.4:c.1591G>C (CACNB2) ENSP00000366532.4:p.Val531Leu
ENST00000377319.7:c.1456G>C (CACNB2) ENSP00000366536.3:p.Val486Leu
ENST00000377328.5:c.985G>C (CACNB2) ENSP00000366545.1:p.Val329Leu
ENST00000377329.8:c.1573G>C (CACNB2) ENSP00000366546.4:p.Val525Leu
ENST00000377331.6:c.1579G>C (CACNB2) ENSP00000366548.2:p.Val527Leu
ENST00000396576.6:c.1570G>C (CACNB2) ENSP00000379821.2:p.Val524Leu
ENST00000612134.4:c.1439G>C (CACNB2) ENSP00000480563.1:n.1439G>C
ENST00000612743.1:c.247G>C (CACNB2) ENSP00000478676.1:p.Val83Leu
ENST00000615785.4:c.820G>C (CACNB2) ENSP00000480260.1:p.Val274Leu
ENST00000617363.4:c.1498G>C (CACNB2) ENSP00000479756.1:p.Val500Leu
NM_000724.3:c.1570G>C (CACNB2) NP_000715.2:p.Val524Leu
NM_001167945.1:c.1537G>C (CACNB2) NP_001161417.1:p.Val513Leu
NM_201570.2:c.1591G>C (CACNB2) NP_963864.1:p.Val531Leu
NM_201571.3:c.1651G>C (CACNB2) NP_963865.2:p.Val551Leu
NM_201572.3:c.1579G>C (CACNB2) NP_963866.2:p.Val527Leu
NM_201590.2:c.1573G>C (CACNB2) NP_963884.2:p.Val525Leu
NM_201593.2:c.1621G>C (CACNB2) NP_963887.2:p.Val541Leu
NM_201596.2:c.1735G>C (CACNB2) NP_963890.2:p.Val579Leu
NM_201597.2:c.1663G>C (CACNB2) NP_963891.1:p.Val555Leu
XM_005252588.2:c.1477G>C (CACNB2) XP_005252645.1:p.Val493Leu
XM_005252591.2:c.895G>C (CACNB2) XP_005252648.1:p.Val299Leu
XM_006717502.2:c.1555G>C (CACNB2) XP_006717565.1:p.Val519Leu
XM_011519659.1:c.1501G>C (CACNB2) XP_011517961.1:p.Val501Leu
XM_011519660.1:c.1456G>C (CACNB2) XP_011517962.1:p.Val486Leu
NM_001330060.1:c.1456G>C (CACNB2) NP_001316989.1:p.Val486Leu
XM_005252588.4:c.1477G>C (CACNB2) XP_005252645.1:p.Val493Leu
XM_005252591.3:c.895G>C (CACNB2) XP_005252648.1:p.Val299Leu
XM_006717502.3:c.1555G>C (CACNB2) XP_006717565.1:p.Val519Leu
XM_011519659.2:c.1501G>C (CACNB2) XP_011517961.1:p.Val501Leu
XM_017016625.1:c.895G>C (CACNB2) XP_016872114.1:p.Val299Leu
XR_001747060.1:n.2423+2593C>G (NSUN6)
XR_001747198.1:n.1860G>C (CACNB2)
NM_000724.4:c.1570G>C (CACNB2) NP_000715.2:p.Val524Leu
NM_001167945.2:c.1537G>C (CACNB2) NP_001161417.1:p.Val513Leu
NM_001330060.2:c.1456G>C (CACNB2) NP_001316989.1:p.Val486Leu
NM_201570.3:c.1591G>C (CACNB2) NP_963864.1:p.Val531Leu
NM_201571.4:c.1651G>C (CACNB2) NP_963865.2:p.Val551Leu
NM_201572.4:c.1579G>C (CACNB2) NP_963866.2:p.Val527Leu
NM_201590.3:c.1573G>C (CACNB2) MANE Plus Clinical NP_963884.2:p.Val525Leu
NM_201593.3:c.1621G>C (CACNB2) NP_963887.2:p.Val541Leu
NM_201596.3:c.1735G>C (CACNB2) MANE Select NP_963890.2:p.Val579Leu
NM_201597.3:c.1663G>C (CACNB2) NP_963891.1:p.Val555Leu