Canonical Allele Identifier: CA376060484
Community Standard Title: NM_201596.3(CACNB2):c.682G>T (p.Asp228Tyr)
Gene: CACNB2 HGNC NCBI
NSUN6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.18514247G>T , CM000672.2:g.18514247G>T GRCh38
NC_000010.10:g.18803176G>T , CM000672.1:g.18803176G>T GRCh37
NC_000010.9:g.18843182G>T NCBI36
NG_016195.1:g.378571G>T

Transcript Alleles

HGVS Amino-acid Change
NM_201596.3:c.682G>T (CACNB2) MANE Select NP_963890.2:p.Asp228Tyr
ENST00000324631.13:c.682G>T (CACNB2) MANE Select ENSP00000320025.8:p.Asp228Tyr
NM_201590.3:c.520G>T (CACNB2) MANE Plus Clinical NP_963884.2:p.Asp174Tyr
ENST00000377329.10:c.520G>T (CACNB2) MANE Plus Clinical ENSP00000366546.4:p.Asp174Tyr
NM_000724.3:c.517G>T (CACNB2) NP_000715.2:p.Asp173Tyr
NM_000724.4:c.517G>T (CACNB2) NP_000715.2:p.Asp173Tyr
NM_001167945.1:c.587-264G>T (CACNB2) NP_001161417.1:n.587-264G>T
NM_001167945.2:c.587-264G>T (CACNB2) NP_001161417.1:n.587-264G>T
NM_001330060.1:c.506-264G>T (CACNB2) NP_001316989.1:n.506-264G>T
NM_001330060.2:c.506-264G>T (CACNB2) NP_001316989.1:n.506-264G>T
NM_201570.2:c.538G>T (CACNB2) NP_963864.1:p.Asp180Tyr
NM_201570.3:c.538G>T (CACNB2) NP_963864.1:p.Asp180Tyr
NM_201571.3:c.598G>T (CACNB2) NP_963865.2:p.Asp200Tyr
NM_201571.4:c.598G>T (CACNB2) NP_963865.2:p.Asp200Tyr
NM_201572.3:c.587-733G>T (CACNB2) NP_963866.2:n.587-733G>T
NM_201572.4:c.587-733G>T (CACNB2) NP_963866.2:n.587-733G>T
NM_201590.2:c.520G>T (CACNB2) NP_963884.2:p.Asp174Tyr
NM_201593.2:c.671-264G>T (CACNB2) NP_963887.2:n.671-264G>T
NM_201593.3:c.671-264G>T (CACNB2) NP_963887.2:n.671-264G>T
NM_201596.2:c.682G>T (CACNB2) NP_963890.2:p.Asp228Tyr
NM_201597.2:c.671-733G>T (CACNB2) NP_963891.1:n.671-733G>T
NM_201597.3:c.671-733G>T (CACNB2) NP_963891.1:n.671-733G>T
ENST00000282343.12:c.598G>T (CACNB2) ENSP00000282343.8:p.Asp200Tyr
ENST00000282343.13:c.598G>T (CACNB2) ENSP00000282343.8:p.Asp200Tyr
ENST00000324631.11:c.682G>T (CACNB2) ENSP00000320025.7:p.Asp228Tyr
ENST00000352115.10:c.671-733G>T (CACNB2) ENSP00000344474.6:n.671-733G>T
ENST00000377315.4:c.538G>T (CACNB2) ENSP00000366532.4:p.Asp180Tyr
ENST00000377315.5:c.538G>T (CACNB2) ENSP00000366532.4:p.Asp180Tyr
ENST00000377315.6:c.538G>T (CACNB2) ENSP00000366532.4:p.Asp180Tyr
ENST00000377319.7:c.506-264G>T (CACNB2) ENSP00000366536.3:n.506-264G>T
ENST00000377319.8:c.506-264G>T (CACNB2) ENSP00000366536.3:n.506-264G>T
ENST00000377319.9:c.506-264G>T (CACNB2) ENSP00000366536.3:n.506-264G>T
ENST00000377328.5:c.456+15770G>T (CACNB2) ENSP00000366545.1:n.456+15770G>T
ENST00000377329.8:c.520G>T (CACNB2) ENSP00000366546.4:p.Asp174Tyr
ENST00000377331.6:c.587-733G>T (CACNB2) ENSP00000366548.2:n.587-733G>T
ENST00000377331.8:c.506-264G>T (CACNB2) ENSP00000366548.4:n.506-264G>T
ENST00000396576.6:c.517G>T (CACNB2) ENSP00000379821.2:p.Asp173Tyr
ENST00000612134.4:c.509-4089G>T (CACNB2) ENSP00000480563.1:n.509-4089G>T
ENST00000612743.1:c.35-25017G>T (CACNB2) ENSP00000478676.1:n.35-25017G>T
ENST00000615785.4:c.291+15770G>T (CACNB2) ENSP00000480260.1:n.291+15770G>T
ENST00000617363.4:c.506-733G>T (CACNB2) ENSP00000479756.1:n.506-733G>T
ENST00000643096.2:c.587-264G>T (CACNB2) ENSP00000494209.2:n.587-264G>T
ENST00000643330.1:n.872-264G>T (CACNB2)
ENST00000644004.1:c.587-264G>T (CACNB2) ENSP00000495509.1:n.587-264G>T
ENST00000645287.1:c.587-733G>T (CACNB2) ENSP00000496203.1:n.587-733G>T
ENST00000645287.2:c.587-733G>T (CACNB2) ENSP00000496203.1:n.587-733G>T
ENST00000647168.2:c.527-264G>T (CACNB2) ENSP00000495854.2:n.527-264G>T
ENST00000650685.1:c.527-264G>T (CACNB2) ENSP00000498460.1:n.527-264G>T
ENST00000651330.1:c.450-264G>T (CACNB2) ENSP00000498457.1:n.450-264G>T
ENST00000651468.1:c.342-264G>T (CACNB2) ENSP00000498352.1:n.342-264G>T
ENST00000651928.1:c.538G>T (CACNB2) ENSP00000499177.1:p.Asp180Tyr
ENST00000652391.1:c.502G>T (CACNB2) ENSP00000498938.1:p.Asp168Tyr
ENST00000652478.1:c.538G>T (CACNB2) ENSP00000498812.1:p.Asp180Tyr
XM_005252588.2:c.527-264G>T (CACNB2) XP_005252645.1:n.527-264G>T
XM_005252588.4:c.527-264G>T (CACNB2) XP_005252645.1:n.527-264G>T
XM_005252591.2:c.-36-4089G>T (CACNB2) XP_005252648.1:n.-36-4089G>T
XM_005252591.3:c.-36-4089G>T (CACNB2) XP_005252648.1:n.-36-4089G>T
XM_006717502.2:c.502G>T (CACNB2) XP_006717565.1:p.Asp168Tyr
XM_006717502.3:c.502G>T (CACNB2) XP_006717565.1:p.Asp168Tyr
XM_011519659.1:c.509-733G>T (CACNB2) XP_011517961.1:n.509-733G>T
XM_011519659.2:c.509-733G>T (CACNB2) XP_011517961.1:n.509-733G>T
XM_011519660.1:c.506-264G>T (CACNB2) XP_011517962.1:n.506-264G>T
XM_017016625.1:c.-118-264G>T (CACNB2) XP_016872114.1:n.-118-264G>T
XR_001747060.1:n.2424-587C>A (NSUN6)
XR_001747198.1:n.848-264G>T (CACNB2)
XR_930717.1:n.73-587C>A
XR_930718.1:n.1034-587C>A