Canonical Allele Identifier: CA376072772
Gene: CACNB2 HGNC NCBI
NSUN6 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.18539637T>A , CM000672.2:g.18539637T>A GRCh38
NC_000010.10:g.18828566T>A , CM000672.1:g.18828566T>A GRCh37
NC_000010.9:g.18868572T>A NCBI36
NG_016195.1:g.403961T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000377315.6:c.1752T>A (CACNB2) ENSP00000366532.4:p.Asp584Glu
ENST00000377319.9:c.1617T>A (CACNB2) ENSP00000366536.3:p.Asp539Glu
ENST00000645287.2:c.1740T>A (CACNB2) ENSP00000496203.1:p.Asp580Glu
ENST00000282343.13:c.1812T>A (CACNB2) ENSP00000282343.8:p.Asp604Glu
ENST00000324631.13:c.1896T>A (CACNB2) MANE Select ENSP00000320025.8:p.Asp632Glu
ENST00000377315.5:c.1752T>A (CACNB2) ENSP00000366532.4:p.Asp584Glu
ENST00000377319.8:c.1617T>A (CACNB2) ENSP00000366536.3:p.Asp539Glu
ENST00000377329.10:c.1734T>A (CACNB2) MANE Plus Clinical ENSP00000366546.4:p.Asp578Glu
ENST00000377331.8:c.1521T>A (CACNB2) ENSP00000366548.4:p.Asp507Glu
ENST00000643096.2:c.1698T>A (CACNB2) ENSP00000494209.2:p.Asp566Glu
ENST00000645287.1:c.1740T>A (CACNB2) ENSP00000496203.1:p.Asp580Glu
ENST00000647168.2:c.*1037T>A (CACNB2) ENSP00000495854.2:n.*1037T>A
ENST00000650685.1:c.1638T>A (CACNB2) ENSP00000498460.1:p.Asp546Glu
ENST00000651330.1:c.*1170T>A (CACNB2) ENSP00000498457.1:n.*1170T>A
ENST00000651468.1:c.1453T>A (CACNB2) ENSP00000498352.1:n.1453T>A
ENST00000651928.1:c.*1135T>A (CACNB2) ENSP00000499177.1:n.*1135T>A
ENST00000652391.1:c.1716T>A (CACNB2) ENSP00000498938.1:p.Asp572Glu
ENST00000652478.1:c.*996T>A (CACNB2) ENSP00000498812.1:n.*996T>A
ENST00000282343.12:c.1812T>A (CACNB2) ENSP00000282343.8:p.Asp604Glu
ENST00000324631.11:c.1896T>A (CACNB2) ENSP00000320025.7:p.Asp632Glu
ENST00000352115.10:c.1824T>A (CACNB2) ENSP00000344474.6:p.Asp608Glu
ENST00000377315.4:c.1752T>A (CACNB2) ENSP00000366532.4:p.Asp584Glu
ENST00000377319.7:c.1617T>A (CACNB2) ENSP00000366536.3:p.Asp539Glu
ENST00000377328.5:c.1146T>A (CACNB2) ENSP00000366545.1:p.Asp382Glu
ENST00000377329.8:c.1734T>A (CACNB2) ENSP00000366546.4:p.Asp578Glu
ENST00000377331.6:c.1740T>A (CACNB2) ENSP00000366548.2:p.Asp580Glu
ENST00000396576.6:c.1731T>A (CACNB2) ENSP00000379821.2:p.Asp577Glu
ENST00000612134.4:c.1600T>A (CACNB2) ENSP00000480563.1:n.1600T>A
ENST00000612743.1:c.408T>A (CACNB2) ENSP00000478676.1:p.Asp136Glu
ENST00000615785.4:c.981T>A (CACNB2) ENSP00000480260.1:p.Asp327Glu
ENST00000617363.4:c.1659T>A (CACNB2) ENSP00000479756.1:p.Asp553Glu
NM_000724.3:c.1731T>A (CACNB2) NP_000715.2:p.Asp577Glu
NM_001167945.1:c.1698T>A (CACNB2) NP_001161417.1:p.Asp566Glu
NM_201570.2:c.1752T>A (CACNB2) NP_963864.1:p.Asp584Glu
NM_201571.3:c.1812T>A (CACNB2) NP_963865.2:p.Asp604Glu
NM_201572.3:c.1740T>A (CACNB2) NP_963866.2:p.Asp580Glu
NM_201590.2:c.1734T>A (CACNB2) NP_963884.2:p.Asp578Glu
NM_201593.2:c.1782T>A (CACNB2) NP_963887.2:p.Asp594Glu
NM_201596.2:c.1896T>A (CACNB2) NP_963890.2:p.Asp632Glu
NM_201597.2:c.1824T>A (CACNB2) NP_963891.1:p.Asp608Glu
XM_005252588.2:c.1638T>A (CACNB2) XP_005252645.1:p.Asp546Glu
XM_005252591.2:c.1056T>A (CACNB2) XP_005252648.1:p.Asp352Glu
XM_006717502.2:c.1716T>A (CACNB2) XP_006717565.1:p.Asp572Glu
XM_011519659.1:c.1662T>A (CACNB2) XP_011517961.1:p.Asp554Glu
XM_011519660.1:c.1617T>A (CACNB2) XP_011517962.1:p.Asp539Glu
NM_001330060.1:c.1617T>A (CACNB2) NP_001316989.1:p.Asp539Glu
XM_005252588.4:c.1638T>A (CACNB2) XP_005252645.1:p.Asp546Glu
XM_005252591.3:c.1056T>A (CACNB2) XP_005252648.1:p.Asp352Glu
XM_006717502.3:c.1716T>A (CACNB2) XP_006717565.1:p.Asp572Glu
XM_011519659.2:c.1662T>A (CACNB2) XP_011517961.1:p.Asp554Glu
XM_017016625.1:c.1056T>A (CACNB2) XP_016872114.1:p.Asp352Glu
XR_001747060.1:n.2423+2432A>T (NSUN6)
XR_001747198.1:n.2021T>A (CACNB2)
NM_000724.4:c.1731T>A (CACNB2) NP_000715.2:p.Asp577Glu
NM_001167945.2:c.1698T>A (CACNB2) NP_001161417.1:p.Asp566Glu
NM_001330060.2:c.1617T>A (CACNB2) NP_001316989.1:p.Asp539Glu
NM_201570.3:c.1752T>A (CACNB2) NP_963864.1:p.Asp584Glu
NM_201571.4:c.1812T>A (CACNB2) NP_963865.2:p.Asp604Glu
NM_201572.4:c.1740T>A (CACNB2) NP_963866.2:p.Asp580Glu
NM_201590.3:c.1734T>A (CACNB2) MANE Plus Clinical NP_963884.2:p.Asp578Glu
NM_201593.3:c.1782T>A (CACNB2) NP_963887.2:p.Asp594Glu
NM_201596.3:c.1896T>A (CACNB2) MANE Select NP_963890.2:p.Asp632Glu
NM_201597.3:c.1824T>A (CACNB2) NP_963891.1:p.Asp608Glu