Canonical Allele Identifier: CA203164003
Community Standard Title: NM_201596.3(CACNB2):c.1041A>C (p.Thr347=)
Gene: CACNB2 HGNC NCBI
NSUN6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.18527684A>C , CM000672.2:g.18527684A>C GRCh38
NC_000010.10:g.18816613A>C , CM000672.1:g.18816613A>C GRCh37
NC_000010.9:g.18856619A>C NCBI36
NG_016195.1:g.392008A>C

Transcript Alleles

HGVS Amino-acid Change
NM_201596.3:c.1041A>C (CACNB2) MANE Select NP_963890.2:p.Thr347=
ENST00000324631.13:c.1041A>C (CACNB2) MANE Select ENSP00000320025.8:p.Thr347=
NM_201590.3:c.879A>C (CACNB2) MANE Plus Clinical NP_963884.2:p.Thr293=
ENST00000377329.10:c.879A>C (CACNB2) MANE Plus Clinical ENSP00000366546.4:p.Thr293=
NM_000724.3:c.876A>C (CACNB2) NP_000715.2:p.Thr292=
NM_000724.4:c.876A>C (CACNB2) NP_000715.2:p.Thr292=
NM_001167945.1:c.843A>C (CACNB2) NP_001161417.1:p.Thr281=
NM_001167945.2:c.843A>C (CACNB2) NP_001161417.1:p.Thr281=
NM_001330060.1:c.762A>C (CACNB2) NP_001316989.1:p.Thr254=
NM_001330060.2:c.762A>C (CACNB2) NP_001316989.1:p.Thr254=
NM_201570.2:c.897A>C (CACNB2) NP_963864.1:p.Thr299=
NM_201570.3:c.897A>C (CACNB2) NP_963864.1:p.Thr299=
NM_201571.3:c.957A>C (CACNB2) NP_963865.2:p.Thr319=
NM_201571.4:c.957A>C (CACNB2) NP_963865.2:p.Thr319=
NM_201572.3:c.885A>C (CACNB2) NP_963866.2:p.Thr295=
NM_201572.4:c.885A>C (CACNB2) NP_963866.2:p.Thr295=
NM_201590.2:c.879A>C (CACNB2) NP_963884.2:p.Thr293=
NM_201593.2:c.927A>C (CACNB2) NP_963887.2:p.Thr309=
NM_201593.3:c.927A>C (CACNB2) NP_963887.2:p.Thr309=
NM_201596.2:c.1041A>C (CACNB2) NP_963890.2:p.Thr347=
NM_201597.2:c.969A>C (CACNB2) NP_963891.1:p.Thr323=
NM_201597.3:c.969A>C (CACNB2) NP_963891.1:p.Thr323=
ENST00000282343.12:c.957A>C (CACNB2) ENSP00000282343.8:p.Thr319=
ENST00000282343.13:c.957A>C (CACNB2) ENSP00000282343.8:p.Thr319=
ENST00000324631.11:c.1041A>C (CACNB2) ENSP00000320025.7:p.Thr347=
ENST00000352115.10:c.969A>C (CACNB2) ENSP00000344474.6:p.Thr323=
ENST00000377315.4:c.897A>C (CACNB2) ENSP00000366532.4:p.Thr299=
ENST00000377315.5:c.897A>C (CACNB2) ENSP00000366532.4:p.Thr299=
ENST00000377315.6:c.897A>C (CACNB2) ENSP00000366532.4:p.Thr299=
ENST00000377319.7:c.762A>C (CACNB2) ENSP00000366536.3:p.Thr254=
ENST00000377319.8:c.762A>C (CACNB2) ENSP00000366536.3:p.Thr254=
ENST00000377319.9:c.762A>C (CACNB2) ENSP00000366536.3:p.Thr254=
ENST00000377328.5:c.457-8417A>C (CACNB2) ENSP00000366545.1:n.457-8417A>C
ENST00000377329.8:c.879A>C (CACNB2) ENSP00000366546.4:p.Thr293=
ENST00000377331.6:c.885A>C (CACNB2) ENSP00000366548.2:p.Thr295=
ENST00000377331.8:c.762A>C (CACNB2) ENSP00000366548.4:p.Thr254=
ENST00000396576.6:c.876A>C (CACNB2) ENSP00000379821.2:p.Thr292=
ENST00000612134.4:c.745A>C (CACNB2) ENSP00000480563.1:n.745A>C
ENST00000612743.1:c.35-11580A>C (CACNB2) ENSP00000478676.1:n.35-11580A>C
ENST00000615785.4:c.292-8417A>C (CACNB2) ENSP00000480260.1:n.292-8417A>C
ENST00000617363.4:c.804A>C (CACNB2) ENSP00000479756.1:p.Thr268=
ENST00000643096.2:c.843A>C (CACNB2) ENSP00000494209.2:p.Thr281=
ENST00000645287.1:c.885A>C (CACNB2) ENSP00000496203.1:p.Thr295=
ENST00000645287.2:c.885A>C (CACNB2) ENSP00000496203.1:p.Thr295=
ENST00000647168.2:c.*182A>C (CACNB2) ENSP00000495854.2:n.*182A>C
ENST00000650685.1:c.783A>C (CACNB2) ENSP00000498460.1:p.Thr261=
ENST00000651330.1:c.*315A>C (CACNB2) ENSP00000498457.1:n.*315A>C
ENST00000651468.1:c.598A>C (CACNB2) ENSP00000498352.1:n.598A>C
ENST00000651928.1:c.*280A>C (CACNB2) ENSP00000499177.1:n.*280A>C
ENST00000652391.1:c.861A>C (CACNB2) ENSP00000498938.1:p.Thr287=
ENST00000652478.1:c.*141A>C (CACNB2) ENSP00000498812.1:n.*141A>C
XM_005252588.2:c.783A>C (CACNB2) XP_005252645.1:p.Thr261=
XM_005252588.4:c.783A>C (CACNB2) XP_005252645.1:p.Thr261=
XM_005252591.2:c.201A>C (CACNB2) XP_005252648.1:p.Thr67=
XM_005252591.3:c.201A>C (CACNB2) XP_005252648.1:p.Thr67=
XM_006717502.2:c.861A>C (CACNB2) XP_006717565.1:p.Thr287=
XM_006717502.3:c.861A>C (CACNB2) XP_006717565.1:p.Thr287=
XM_011519659.1:c.807A>C (CACNB2) XP_011517961.1:p.Thr269=
XM_011519659.2:c.807A>C (CACNB2) XP_011517961.1:p.Thr269=
XM_011519660.1:c.762A>C (CACNB2) XP_011517962.1:p.Thr254=
XM_017016625.1:c.201A>C (CACNB2) XP_016872114.1:p.Thr67=
XR_001747060.1:n.2424-14024T>G (NSUN6)
XR_001747198.1:n.1166A>C (CACNB2)
XR_930717.1:n.72+11510T>G
XR_930718.1:n.1033+5353T>G