Canonical Allele Identifier: CA468628044
Gene: CACNB2 HGNC NCBI
NSUN6 HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.18828317C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.18539388C>A , CM000672.2:g.18539388C>A GRCh38
NC_000010.10:g.18828317C>A , CM000672.1:g.18828317C>A GRCh37
NC_000010.9:g.18868323C>A NCBI36
NG_016195.1:g.403712C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000377315.6:c.1503C>A (CACNB2) ENSP00000366532.4:p.Leu501=
ENST00000377319.9:c.1368C>A (CACNB2) ENSP00000366536.3:p.Leu456=
ENST00000645287.2:c.1491C>A (CACNB2) ENSP00000496203.1:p.Leu497=
ENST00000282343.13:c.1563C>A (CACNB2) ENSP00000282343.8:p.Leu521=
ENST00000324631.13:c.1647C>A (CACNB2) MANE Select ENSP00000320025.8:p.Leu549=
ENST00000377315.5:c.1503C>A (CACNB2) ENSP00000366532.4:p.Leu501=
ENST00000377319.8:c.1368C>A (CACNB2) ENSP00000366536.3:p.Leu456=
ENST00000377329.10:c.1485C>A (CACNB2) MANE Plus Clinical ENSP00000366546.4:p.Leu495=
ENST00000377331.8:c.1272C>A (CACNB2) ENSP00000366548.4:p.Leu424=
ENST00000643096.2:c.1449C>A (CACNB2) ENSP00000494209.2:p.Leu483=
ENST00000645287.1:c.1491C>A (CACNB2) ENSP00000496203.1:p.Leu497=
ENST00000647168.2:c.*788C>A (CACNB2) ENSP00000495854.2:n.*788C>A
ENST00000650685.1:c.1389C>A (CACNB2) ENSP00000498460.1:p.Leu463=
ENST00000651330.1:c.*921C>A (CACNB2) ENSP00000498457.1:n.*921C>A
ENST00000651468.1:c.1204C>A (CACNB2) ENSP00000498352.1:n.1204C>A
ENST00000651928.1:c.*886C>A (CACNB2) ENSP00000499177.1:n.*886C>A
ENST00000652391.1:c.1467C>A (CACNB2) ENSP00000498938.1:p.Leu489=
ENST00000652478.1:c.*747C>A (CACNB2) ENSP00000498812.1:n.*747C>A
ENST00000282343.12:c.1563C>A (CACNB2) ENSP00000282343.8:p.Leu521=
ENST00000324631.11:c.1647C>A (CACNB2) ENSP00000320025.7:p.Leu549=
ENST00000352115.10:c.1575C>A (CACNB2) ENSP00000344474.6:p.Leu525=
ENST00000377315.4:c.1503C>A (CACNB2) ENSP00000366532.4:p.Leu501=
ENST00000377319.7:c.1368C>A (CACNB2) ENSP00000366536.3:p.Leu456=
ENST00000377328.5:c.897C>A (CACNB2) ENSP00000366545.1:p.Leu299=
ENST00000377329.8:c.1485C>A (CACNB2) ENSP00000366546.4:p.Leu495=
ENST00000377331.6:c.1491C>A (CACNB2) ENSP00000366548.2:p.Leu497=
ENST00000396576.6:c.1482C>A (CACNB2) ENSP00000379821.2:p.Leu494=
ENST00000612134.4:c.1351C>A (CACNB2) ENSP00000480563.1:n.1351C>A
ENST00000612743.1:c.159C>A (CACNB2) ENSP00000478676.1:p.Leu53=
ENST00000615785.4:c.732C>A (CACNB2) ENSP00000480260.1:p.Leu244=
ENST00000617363.4:c.1410C>A (CACNB2) ENSP00000479756.1:p.Leu470=
NM_000724.3:c.1482C>A (CACNB2) NP_000715.2:p.Leu494=
NM_001167945.1:c.1449C>A (CACNB2) NP_001161417.1:p.Leu483=
NM_201570.2:c.1503C>A (CACNB2) NP_963864.1:p.Leu501=
NM_201571.3:c.1563C>A (CACNB2) NP_963865.2:p.Leu521=
NM_201572.3:c.1491C>A (CACNB2) NP_963866.2:p.Leu497=
NM_201590.2:c.1485C>A (CACNB2) NP_963884.2:p.Leu495=
NM_201593.2:c.1533C>A (CACNB2) NP_963887.2:p.Leu511=
NM_201596.2:c.1647C>A (CACNB2) NP_963890.2:p.Leu549=
NM_201597.2:c.1575C>A (CACNB2) NP_963891.1:p.Leu525=
XM_005252588.2:c.1389C>A (CACNB2) XP_005252645.1:p.Leu463=
XM_005252591.2:c.807C>A (CACNB2) XP_005252648.1:p.Leu269=
XM_006717502.2:c.1467C>A (CACNB2) XP_006717565.1:p.Leu489=
XM_011519659.1:c.1413C>A (CACNB2) XP_011517961.1:p.Leu471=
XM_011519660.1:c.1368C>A (CACNB2) XP_011517962.1:p.Leu456=
NM_001330060.1:c.1368C>A (CACNB2) NP_001316989.1:p.Leu456=
XM_005252588.4:c.1389C>A (CACNB2) XP_005252645.1:p.Leu463=
XM_005252591.3:c.807C>A (CACNB2) XP_005252648.1:p.Leu269=
XM_006717502.3:c.1467C>A (CACNB2) XP_006717565.1:p.Leu489=
XM_011519659.2:c.1413C>A (CACNB2) XP_011517961.1:p.Leu471=
XM_017016625.1:c.807C>A (CACNB2) XP_016872114.1:p.Leu269=
XR_001747060.1:n.2423+2681G>T (NSUN6)
XR_001747198.1:n.1772C>A (CACNB2)
NM_000724.4:c.1482C>A (CACNB2) NP_000715.2:p.Leu494=
NM_001167945.2:c.1449C>A (CACNB2) NP_001161417.1:p.Leu483=
NM_001330060.2:c.1368C>A (CACNB2) NP_001316989.1:p.Leu456=
NM_201570.3:c.1503C>A (CACNB2) NP_963864.1:p.Leu501=
NM_201571.4:c.1563C>A (CACNB2) NP_963865.2:p.Leu521=
NM_201572.4:c.1491C>A (CACNB2) NP_963866.2:p.Leu497=
NM_201590.3:c.1485C>A (CACNB2) MANE Plus Clinical NP_963884.2:p.Leu495=
NM_201593.3:c.1533C>A (CACNB2) NP_963887.2:p.Leu511=
NM_201596.3:c.1647C>A (CACNB2) MANE Select NP_963890.2:p.Leu549=
NM_201597.3:c.1575C>A (CACNB2) NP_963891.1:p.Leu525=