Canonical Allele Identifier: CA468627850
Gene: CACNB2 HGNC NCBI
NSUN6 HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.18828296C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.18539367C>T , CM000672.2:g.18539367C>T GRCh38
NC_000010.10:g.18828296C>T , CM000672.1:g.18828296C>T GRCh37
NC_000010.9:g.18868302C>T NCBI36
NG_016195.1:g.403691C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000377315.6:c.1482C>T (CACNB2) ENSP00000366532.4:p.Arg494=
ENST00000377319.9:c.1347C>T (CACNB2) ENSP00000366536.3:p.Arg449=
ENST00000645287.2:c.1470C>T (CACNB2) ENSP00000496203.1:p.Arg490=
ENST00000282343.13:c.1542C>T (CACNB2) ENSP00000282343.8:p.Arg514=
ENST00000324631.13:c.1626C>T (CACNB2) MANE Select ENSP00000320025.8:p.Arg542=
ENST00000377315.5:c.1482C>T (CACNB2) ENSP00000366532.4:p.Arg494=
ENST00000377319.8:c.1347C>T (CACNB2) ENSP00000366536.3:p.Arg449=
ENST00000377329.10:c.1464C>T (CACNB2) MANE Plus Clinical ENSP00000366546.4:p.Arg488=
ENST00000377331.8:c.1251C>T (CACNB2) ENSP00000366548.4:p.Arg417=
ENST00000643096.2:c.1428C>T (CACNB2) ENSP00000494209.2:p.Arg476=
ENST00000645287.1:c.1470C>T (CACNB2) ENSP00000496203.1:p.Arg490=
ENST00000647168.2:c.*767C>T (CACNB2) ENSP00000495854.2:n.*767C>T
ENST00000650685.1:c.1368C>T (CACNB2) ENSP00000498460.1:p.Arg456=
ENST00000651330.1:c.*900C>T (CACNB2) ENSP00000498457.1:n.*900C>T
ENST00000651468.1:c.1183C>T (CACNB2) ENSP00000498352.1:n.1183C>T
ENST00000651928.1:c.*865C>T (CACNB2) ENSP00000499177.1:n.*865C>T
ENST00000652391.1:c.1446C>T (CACNB2) ENSP00000498938.1:p.Arg482=
ENST00000652478.1:c.*726C>T (CACNB2) ENSP00000498812.1:n.*726C>T
ENST00000282343.12:c.1542C>T (CACNB2) ENSP00000282343.8:p.Arg514=
ENST00000324631.11:c.1626C>T (CACNB2) ENSP00000320025.7:p.Arg542=
ENST00000352115.10:c.1554C>T (CACNB2) ENSP00000344474.6:p.Arg518=
ENST00000377315.4:c.1482C>T (CACNB2) ENSP00000366532.4:p.Arg494=
ENST00000377319.7:c.1347C>T (CACNB2) ENSP00000366536.3:p.Arg449=
ENST00000377328.5:c.876C>T (CACNB2) ENSP00000366545.1:p.Arg292=
ENST00000377329.8:c.1464C>T (CACNB2) ENSP00000366546.4:p.Arg488=
ENST00000377331.6:c.1470C>T (CACNB2) ENSP00000366548.2:p.Arg490=
ENST00000396576.6:c.1461C>T (CACNB2) ENSP00000379821.2:p.Arg487=
ENST00000612134.4:c.1330C>T (CACNB2) ENSP00000480563.1:n.1330C>T
ENST00000612743.1:c.138C>T (CACNB2) ENSP00000478676.1:p.Arg46=
ENST00000615785.4:c.711C>T (CACNB2) ENSP00000480260.1:p.Arg237=
ENST00000617363.4:c.1389C>T (CACNB2) ENSP00000479756.1:p.Arg463=
NM_000724.3:c.1461C>T (CACNB2) NP_000715.2:p.Arg487=
NM_001167945.1:c.1428C>T (CACNB2) NP_001161417.1:p.Arg476=
NM_201570.2:c.1482C>T (CACNB2) NP_963864.1:p.Arg494=
NM_201571.3:c.1542C>T (CACNB2) NP_963865.2:p.Arg514=
NM_201572.3:c.1470C>T (CACNB2) NP_963866.2:p.Arg490=
NM_201590.2:c.1464C>T (CACNB2) NP_963884.2:p.Arg488=
NM_201593.2:c.1512C>T (CACNB2) NP_963887.2:p.Arg504=
NM_201596.2:c.1626C>T (CACNB2) NP_963890.2:p.Arg542=
NM_201597.2:c.1554C>T (CACNB2) NP_963891.1:p.Arg518=
XM_005252588.2:c.1368C>T (CACNB2) XP_005252645.1:p.Arg456=
XM_005252591.2:c.786C>T (CACNB2) XP_005252648.1:p.Arg262=
XM_006717502.2:c.1446C>T (CACNB2) XP_006717565.1:p.Arg482=
XM_011519659.1:c.1392C>T (CACNB2) XP_011517961.1:p.Arg464=
XM_011519660.1:c.1347C>T (CACNB2) XP_011517962.1:p.Arg449=
NM_001330060.1:c.1347C>T (CACNB2) NP_001316989.1:p.Arg449=
XM_005252588.4:c.1368C>T (CACNB2) XP_005252645.1:p.Arg456=
XM_005252591.3:c.786C>T (CACNB2) XP_005252648.1:p.Arg262=
XM_006717502.3:c.1446C>T (CACNB2) XP_006717565.1:p.Arg482=
XM_011519659.2:c.1392C>T (CACNB2) XP_011517961.1:p.Arg464=
XM_017016625.1:c.786C>T (CACNB2) XP_016872114.1:p.Arg262=
XR_001747060.1:n.2423+2702G>A (NSUN6)
XR_001747198.1:n.1751C>T (CACNB2)
NM_000724.4:c.1461C>T (CACNB2) NP_000715.2:p.Arg487=
NM_001167945.2:c.1428C>T (CACNB2) NP_001161417.1:p.Arg476=
NM_001330060.2:c.1347C>T (CACNB2) NP_001316989.1:p.Arg449=
NM_201570.3:c.1482C>T (CACNB2) NP_963864.1:p.Arg494=
NM_201571.4:c.1542C>T (CACNB2) NP_963865.2:p.Arg514=
NM_201572.4:c.1470C>T (CACNB2) NP_963866.2:p.Arg490=
NM_201590.3:c.1464C>T (CACNB2) MANE Plus Clinical NP_963884.2:p.Arg488=
NM_201593.3:c.1512C>T (CACNB2) NP_963887.2:p.Arg504=
NM_201596.3:c.1626C>T (CACNB2) MANE Select NP_963890.2:p.Arg542=
NM_201597.3:c.1554C>T (CACNB2) NP_963891.1:p.Arg518=