Canonical Allele Identifier: CA468629056
Gene: CACNB2 HGNC NCBI
NSUN6 HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.18828356T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.18539427T>C , CM000672.2:g.18539427T>C GRCh38
NC_000010.10:g.18828356T>C , CM000672.1:g.18828356T>C GRCh37
NC_000010.9:g.18868362T>C NCBI36
NG_016195.1:g.403751T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000377315.6:c.1542T>C (CACNB2) ENSP00000366532.4:p.Ser514=
ENST00000377319.9:c.1407T>C (CACNB2) ENSP00000366536.3:p.Ser469=
ENST00000645287.2:c.1530T>C (CACNB2) ENSP00000496203.1:p.Ser510=
ENST00000282343.13:c.1602T>C (CACNB2) ENSP00000282343.8:p.Ser534=
ENST00000324631.13:c.1686T>C (CACNB2) MANE Select ENSP00000320025.8:p.Ser562=
ENST00000377315.5:c.1542T>C (CACNB2) ENSP00000366532.4:p.Ser514=
ENST00000377319.8:c.1407T>C (CACNB2) ENSP00000366536.3:p.Ser469=
ENST00000377329.10:c.1524T>C (CACNB2) MANE Plus Clinical ENSP00000366546.4:p.Ser508=
ENST00000377331.8:c.1311T>C (CACNB2) ENSP00000366548.4:p.Ser437=
ENST00000643096.2:c.1488T>C (CACNB2) ENSP00000494209.2:p.Ser496=
ENST00000645287.1:c.1530T>C (CACNB2) ENSP00000496203.1:p.Ser510=
ENST00000647168.2:c.*827T>C (CACNB2) ENSP00000495854.2:n.*827T>C
ENST00000650685.1:c.1428T>C (CACNB2) ENSP00000498460.1:p.Ser476=
ENST00000651330.1:c.*960T>C (CACNB2) ENSP00000498457.1:n.*960T>C
ENST00000651468.1:c.1243T>C (CACNB2) ENSP00000498352.1:n.1243T>C
ENST00000651928.1:c.*925T>C (CACNB2) ENSP00000499177.1:n.*925T>C
ENST00000652391.1:c.1506T>C (CACNB2) ENSP00000498938.1:p.Ser502=
ENST00000652478.1:c.*786T>C (CACNB2) ENSP00000498812.1:n.*786T>C
ENST00000282343.12:c.1602T>C (CACNB2) ENSP00000282343.8:p.Ser534=
ENST00000324631.11:c.1686T>C (CACNB2) ENSP00000320025.7:p.Ser562=
ENST00000352115.10:c.1614T>C (CACNB2) ENSP00000344474.6:p.Ser538=
ENST00000377315.4:c.1542T>C (CACNB2) ENSP00000366532.4:p.Ser514=
ENST00000377319.7:c.1407T>C (CACNB2) ENSP00000366536.3:p.Ser469=
ENST00000377328.5:c.936T>C (CACNB2) ENSP00000366545.1:p.Ser312=
ENST00000377329.8:c.1524T>C (CACNB2) ENSP00000366546.4:p.Ser508=
ENST00000377331.6:c.1530T>C (CACNB2) ENSP00000366548.2:p.Ser510=
ENST00000396576.6:c.1521T>C (CACNB2) ENSP00000379821.2:p.Ser507=
ENST00000612134.4:c.1390T>C (CACNB2) ENSP00000480563.1:n.1390T>C
ENST00000612743.1:c.198T>C (CACNB2) ENSP00000478676.1:p.Ser66=
ENST00000615785.4:c.771T>C (CACNB2) ENSP00000480260.1:p.Ser257=
ENST00000617363.4:c.1449T>C (CACNB2) ENSP00000479756.1:p.Ser483=
NM_000724.3:c.1521T>C (CACNB2) NP_000715.2:p.Ser507=
NM_001167945.1:c.1488T>C (CACNB2) NP_001161417.1:p.Ser496=
NM_201570.2:c.1542T>C (CACNB2) NP_963864.1:p.Ser514=
NM_201571.3:c.1602T>C (CACNB2) NP_963865.2:p.Ser534=
NM_201572.3:c.1530T>C (CACNB2) NP_963866.2:p.Ser510=
NM_201590.2:c.1524T>C (CACNB2) NP_963884.2:p.Ser508=
NM_201593.2:c.1572T>C (CACNB2) NP_963887.2:p.Ser524=
NM_201596.2:c.1686T>C (CACNB2) NP_963890.2:p.Ser562=
NM_201597.2:c.1614T>C (CACNB2) NP_963891.1:p.Ser538=
XM_005252588.2:c.1428T>C (CACNB2) XP_005252645.1:p.Ser476=
XM_005252591.2:c.846T>C (CACNB2) XP_005252648.1:p.Ser282=
XM_006717502.2:c.1506T>C (CACNB2) XP_006717565.1:p.Ser502=
XM_011519659.1:c.1452T>C (CACNB2) XP_011517961.1:p.Ser484=
XM_011519660.1:c.1407T>C (CACNB2) XP_011517962.1:p.Ser469=
NM_001330060.1:c.1407T>C (CACNB2) NP_001316989.1:p.Ser469=
XM_005252588.4:c.1428T>C (CACNB2) XP_005252645.1:p.Ser476=
XM_005252591.3:c.846T>C (CACNB2) XP_005252648.1:p.Ser282=
XM_006717502.3:c.1506T>C (CACNB2) XP_006717565.1:p.Ser502=
XM_011519659.2:c.1452T>C (CACNB2) XP_011517961.1:p.Ser484=
XM_017016625.1:c.846T>C (CACNB2) XP_016872114.1:p.Ser282=
XR_001747060.1:n.2423+2642A>G (NSUN6)
XR_001747198.1:n.1811T>C (CACNB2)
NM_000724.4:c.1521T>C (CACNB2) NP_000715.2:p.Ser507=
NM_001167945.2:c.1488T>C (CACNB2) NP_001161417.1:p.Ser496=
NM_001330060.2:c.1407T>C (CACNB2) NP_001316989.1:p.Ser469=
NM_201570.3:c.1542T>C (CACNB2) NP_963864.1:p.Ser514=
NM_201571.4:c.1602T>C (CACNB2) NP_963865.2:p.Ser534=
NM_201572.4:c.1530T>C (CACNB2) NP_963866.2:p.Ser510=
NM_201590.3:c.1524T>C (CACNB2) MANE Plus Clinical NP_963884.2:p.Ser508=
NM_201593.3:c.1572T>C (CACNB2) NP_963887.2:p.Ser524=
NM_201596.3:c.1686T>C (CACNB2) MANE Select NP_963890.2:p.Ser562=
NM_201597.3:c.1614T>C (CACNB2) NP_963891.1:p.Ser538=