Canonical Allele Identifier: CA5430156
Gene: CACNB2 HGNC NCBI
NSUN6 HGNC NCBI

Linked Data

dbSNP Id: rs532096958

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