Canonical Allele Identifier: CA5430092
Community Standard Title: NM_201596.3(CACNB2):c.1539T>C (p.Ala513=)
Gene: CACNB2 HGNC NCBI
NSUN6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.18539280T>C , CM000672.2:g.18539280T>C GRCh38
NC_000010.10:g.18828209T>C , CM000672.1:g.18828209T>C GRCh37
NC_000010.9:g.18868215T>C NCBI36
NG_016195.1:g.403604T>C

Transcript Alleles

HGVS Amino-acid Change
NM_201596.3:c.1539T>C (CACNB2) MANE Select NP_963890.2:p.Ala513=
ENST00000324631.13:c.1539T>C (CACNB2) MANE Select ENSP00000320025.8:p.Ala513=
NM_201590.3:c.1377T>C (CACNB2) MANE Plus Clinical NP_963884.2:p.Ala459=
ENST00000377329.10:c.1377T>C (CACNB2) MANE Plus Clinical ENSP00000366546.4:p.Ala459=
NM_000724.3:c.1374T>C (CACNB2) NP_000715.2:p.Ala458=
NM_000724.4:c.1374T>C (CACNB2) NP_000715.2:p.Ala458=
NM_001167945.1:c.1341T>C (CACNB2) NP_001161417.1:p.Ala447=
NM_001167945.2:c.1341T>C (CACNB2) NP_001161417.1:p.Ala447=
NM_001330060.1:c.1260T>C (CACNB2) NP_001316989.1:p.Ala420=
NM_001330060.2:c.1260T>C (CACNB2) NP_001316989.1:p.Ala420=
NM_201570.2:c.1395T>C (CACNB2) NP_963864.1:p.Ala465=
NM_201570.3:c.1395T>C (CACNB2) NP_963864.1:p.Ala465=
NM_201571.3:c.1455T>C (CACNB2) NP_963865.2:p.Ala485=
NM_201571.4:c.1455T>C (CACNB2) NP_963865.2:p.Ala485=
NM_201572.3:c.1383T>C (CACNB2) NP_963866.2:p.Ala461=
NM_201572.4:c.1383T>C (CACNB2) NP_963866.2:p.Ala461=
NM_201590.2:c.1377T>C (CACNB2) NP_963884.2:p.Ala459=
NM_201593.2:c.1425T>C (CACNB2) NP_963887.2:p.Ala475=
NM_201593.3:c.1425T>C (CACNB2) NP_963887.2:p.Ala475=
NM_201596.2:c.1539T>C (CACNB2) NP_963890.2:p.Ala513=
NM_201597.2:c.1467T>C (CACNB2) NP_963891.1:p.Ala489=
NM_201597.3:c.1467T>C (CACNB2) NP_963891.1:p.Ala489=
ENST00000282343.12:c.1455T>C (CACNB2) ENSP00000282343.8:p.Ala485=
ENST00000282343.13:c.1455T>C (CACNB2) ENSP00000282343.8:p.Ala485=
ENST00000324631.11:c.1539T>C (CACNB2) ENSP00000320025.7:p.Ala513=
ENST00000352115.10:c.1467T>C (CACNB2) ENSP00000344474.6:p.Ala489=
ENST00000377315.4:c.1395T>C (CACNB2) ENSP00000366532.4:p.Ala465=
ENST00000377315.5:c.1395T>C (CACNB2) ENSP00000366532.4:p.Ala465=
ENST00000377315.6:c.1395T>C (CACNB2) ENSP00000366532.4:p.Ala465=
ENST00000377319.7:c.1260T>C (CACNB2) ENSP00000366536.3:p.Ala420=
ENST00000377319.8:c.1260T>C (CACNB2) ENSP00000366536.3:p.Ala420=
ENST00000377319.9:c.1260T>C (CACNB2) ENSP00000366536.3:p.Ala420=
ENST00000377328.5:c.789T>C (CACNB2) ENSP00000366545.1:p.Ala263=
ENST00000377329.8:c.1377T>C (CACNB2) ENSP00000366546.4:p.Ala459=
ENST00000377331.6:c.1383T>C (CACNB2) ENSP00000366548.2:p.Ala461=
ENST00000377331.8:c.1164T>C (CACNB2) ENSP00000366548.4:p.Ala388=
ENST00000396576.6:c.1374T>C (CACNB2) ENSP00000379821.2:p.Ala458=
ENST00000612134.4:c.1243T>C (CACNB2) ENSP00000480563.1:n.1243T>C
ENST00000612743.1:c.51T>C (CACNB2) ENSP00000478676.1:p.Ala17=
ENST00000615785.4:c.624T>C (CACNB2) ENSP00000480260.1:p.Ala208=
ENST00000617363.4:c.1302T>C (CACNB2) ENSP00000479756.1:p.Ala434=
ENST00000643096.2:c.1341T>C (CACNB2) ENSP00000494209.2:p.Ala447=
ENST00000645287.1:c.1383T>C (CACNB2) ENSP00000496203.1:p.Ala461=
ENST00000645287.2:c.1383T>C (CACNB2) ENSP00000496203.1:p.Ala461=
ENST00000647168.2:c.*680T>C (CACNB2) ENSP00000495854.2:n.*680T>C
ENST00000650685.1:c.1281T>C (CACNB2) ENSP00000498460.1:p.Ala427=
ENST00000651330.1:c.*813T>C (CACNB2) ENSP00000498457.1:n.*813T>C
ENST00000651468.1:c.1096T>C (CACNB2) ENSP00000498352.1:n.1096T>C
ENST00000651928.1:c.*778T>C (CACNB2) ENSP00000499177.1:n.*778T>C
ENST00000652391.1:c.1359T>C (CACNB2) ENSP00000498938.1:p.Ala453=
ENST00000652478.1:c.*639T>C (CACNB2) ENSP00000498812.1:n.*639T>C
XM_005252588.2:c.1281T>C (CACNB2) XP_005252645.1:p.Ala427=
XM_005252588.4:c.1281T>C (CACNB2) XP_005252645.1:p.Ala427=
XM_005252591.2:c.699T>C (CACNB2) XP_005252648.1:p.Ala233=
XM_005252591.3:c.699T>C (CACNB2) XP_005252648.1:p.Ala233=
XM_006717502.2:c.1359T>C (CACNB2) XP_006717565.1:p.Ala453=
XM_006717502.3:c.1359T>C (CACNB2) XP_006717565.1:p.Ala453=
XM_011519659.1:c.1305T>C (CACNB2) XP_011517961.1:p.Ala435=
XM_011519659.2:c.1305T>C (CACNB2) XP_011517961.1:p.Ala435=
XM_011519660.1:c.1260T>C (CACNB2) XP_011517962.1:p.Ala420=
XM_017016625.1:c.699T>C (CACNB2) XP_016872114.1:p.Ala233=
XR_001747060.1:n.2423+2789A>G (NSUN6)
XR_001747198.1:n.1664T>C (CACNB2)