Canonical Allele Identifier: CA468627949
Gene: CACNB2 HGNC NCBI
NSUN6 HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.18828308T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.18539379T>C , CM000672.2:g.18539379T>C GRCh38
NC_000010.10:g.18828308T>C , CM000672.1:g.18828308T>C GRCh37
NC_000010.9:g.18868314T>C NCBI36
NG_016195.1:g.403703T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000377315.6:c.1494T>C (CACNB2) ENSP00000366532.4:p.Ser498=
ENST00000377319.9:c.1359T>C (CACNB2) ENSP00000366536.3:p.Ser453=
ENST00000645287.2:c.1482T>C (CACNB2) ENSP00000496203.1:p.Ser494=
ENST00000282343.13:c.1554T>C (CACNB2) ENSP00000282343.8:p.Ser518=
ENST00000324631.13:c.1638T>C (CACNB2) MANE Select ENSP00000320025.8:p.Ser546=
ENST00000377315.5:c.1494T>C (CACNB2) ENSP00000366532.4:p.Ser498=
ENST00000377319.8:c.1359T>C (CACNB2) ENSP00000366536.3:p.Ser453=
ENST00000377329.10:c.1476T>C (CACNB2) MANE Plus Clinical ENSP00000366546.4:p.Ser492=
ENST00000377331.8:c.1263T>C (CACNB2) ENSP00000366548.4:p.Ser421=
ENST00000643096.2:c.1440T>C (CACNB2) ENSP00000494209.2:p.Ser480=
ENST00000645287.1:c.1482T>C (CACNB2) ENSP00000496203.1:p.Ser494=
ENST00000647168.2:c.*779T>C (CACNB2) ENSP00000495854.2:n.*779T>C
ENST00000650685.1:c.1380T>C (CACNB2) ENSP00000498460.1:p.Ser460=
ENST00000651330.1:c.*912T>C (CACNB2) ENSP00000498457.1:n.*912T>C
ENST00000651468.1:c.1195T>C (CACNB2) ENSP00000498352.1:n.1195T>C
ENST00000651928.1:c.*877T>C (CACNB2) ENSP00000499177.1:n.*877T>C
ENST00000652391.1:c.1458T>C (CACNB2) ENSP00000498938.1:p.Ser486=
ENST00000652478.1:c.*738T>C (CACNB2) ENSP00000498812.1:n.*738T>C
ENST00000282343.12:c.1554T>C (CACNB2) ENSP00000282343.8:p.Ser518=
ENST00000324631.11:c.1638T>C (CACNB2) ENSP00000320025.7:p.Ser546=
ENST00000352115.10:c.1566T>C (CACNB2) ENSP00000344474.6:p.Ser522=
ENST00000377315.4:c.1494T>C (CACNB2) ENSP00000366532.4:p.Ser498=
ENST00000377319.7:c.1359T>C (CACNB2) ENSP00000366536.3:p.Ser453=
ENST00000377328.5:c.888T>C (CACNB2) ENSP00000366545.1:p.Ser296=
ENST00000377329.8:c.1476T>C (CACNB2) ENSP00000366546.4:p.Ser492=
ENST00000377331.6:c.1482T>C (CACNB2) ENSP00000366548.2:p.Ser494=
ENST00000396576.6:c.1473T>C (CACNB2) ENSP00000379821.2:p.Ser491=
ENST00000612134.4:c.1342T>C (CACNB2) ENSP00000480563.1:n.1342T>C
ENST00000612743.1:c.150T>C (CACNB2) ENSP00000478676.1:p.Ser50=
ENST00000615785.4:c.723T>C (CACNB2) ENSP00000480260.1:p.Ser241=
ENST00000617363.4:c.1401T>C (CACNB2) ENSP00000479756.1:p.Ser467=
NM_000724.3:c.1473T>C (CACNB2) NP_000715.2:p.Ser491=
NM_001167945.1:c.1440T>C (CACNB2) NP_001161417.1:p.Ser480=
NM_201570.2:c.1494T>C (CACNB2) NP_963864.1:p.Ser498=
NM_201571.3:c.1554T>C (CACNB2) NP_963865.2:p.Ser518=
NM_201572.3:c.1482T>C (CACNB2) NP_963866.2:p.Ser494=
NM_201590.2:c.1476T>C (CACNB2) NP_963884.2:p.Ser492=
NM_201593.2:c.1524T>C (CACNB2) NP_963887.2:p.Ser508=
NM_201596.2:c.1638T>C (CACNB2) NP_963890.2:p.Ser546=
NM_201597.2:c.1566T>C (CACNB2) NP_963891.1:p.Ser522=
XM_005252588.2:c.1380T>C (CACNB2) XP_005252645.1:p.Ser460=
XM_005252591.2:c.798T>C (CACNB2) XP_005252648.1:p.Ser266=
XM_006717502.2:c.1458T>C (CACNB2) XP_006717565.1:p.Ser486=
XM_011519659.1:c.1404T>C (CACNB2) XP_011517961.1:p.Ser468=
XM_011519660.1:c.1359T>C (CACNB2) XP_011517962.1:p.Ser453=
NM_001330060.1:c.1359T>C (CACNB2) NP_001316989.1:p.Ser453=
XM_005252588.4:c.1380T>C (CACNB2) XP_005252645.1:p.Ser460=
XM_005252591.3:c.798T>C (CACNB2) XP_005252648.1:p.Ser266=
XM_006717502.3:c.1458T>C (CACNB2) XP_006717565.1:p.Ser486=
XM_011519659.2:c.1404T>C (CACNB2) XP_011517961.1:p.Ser468=
XM_017016625.1:c.798T>C (CACNB2) XP_016872114.1:p.Ser266=
XR_001747060.1:n.2423+2690A>G (NSUN6)
XR_001747198.1:n.1763T>C (CACNB2)
NM_000724.4:c.1473T>C (CACNB2) NP_000715.2:p.Ser491=
NM_001167945.2:c.1440T>C (CACNB2) NP_001161417.1:p.Ser480=
NM_001330060.2:c.1359T>C (CACNB2) NP_001316989.1:p.Ser453=
NM_201570.3:c.1494T>C (CACNB2) NP_963864.1:p.Ser498=
NM_201571.4:c.1554T>C (CACNB2) NP_963865.2:p.Ser518=
NM_201572.4:c.1482T>C (CACNB2) NP_963866.2:p.Ser494=
NM_201590.3:c.1476T>C (CACNB2) MANE Plus Clinical NP_963884.2:p.Ser492=
NM_201593.3:c.1524T>C (CACNB2) NP_963887.2:p.Ser508=
NM_201596.3:c.1638T>C (CACNB2) MANE Select NP_963890.2:p.Ser546=
NM_201597.3:c.1566T>C (CACNB2) NP_963891.1:p.Ser522=