Canonical Allele Identifier: CA376070015
Community Standard Title: NM_201596.3(CACNB2):c.1312G>C (p.Asp438His)
Gene: CACNB2 HGNC NCBI
NSUN6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.18538189G>C , CM000672.2:g.18538189G>C GRCh38
NC_000010.10:g.18827118G>C , CM000672.1:g.18827118G>C GRCh37
NC_000010.9:g.18867124G>C NCBI36
NG_016195.1:g.402513G>C

Transcript Alleles

HGVS Amino-acid Change
NM_201596.3:c.1312G>C (CACNB2) MANE Select NP_963890.2:p.Asp438His
ENST00000324631.13:c.1312G>C (CACNB2) MANE Select ENSP00000320025.8:p.Asp438His
NM_201590.3:c.1150G>C (CACNB2) MANE Plus Clinical NP_963884.2:p.Asp384His
ENST00000377329.10:c.1150G>C (CACNB2) MANE Plus Clinical ENSP00000366546.4:p.Asp384His
NM_000724.3:c.1147G>C (CACNB2) NP_000715.2:p.Asp383His
NM_000724.4:c.1147G>C (CACNB2) NP_000715.2:p.Asp383His
NM_001167945.1:c.1114G>C (CACNB2) NP_001161417.1:p.Asp372His
NM_001167945.2:c.1114G>C (CACNB2) NP_001161417.1:p.Asp372His
NM_001330060.1:c.1033G>C (CACNB2) NP_001316989.1:p.Asp345His
NM_001330060.2:c.1033G>C (CACNB2) NP_001316989.1:p.Asp345His
NM_201570.2:c.1168G>C (CACNB2) NP_963864.1:p.Asp390His
NM_201570.3:c.1168G>C (CACNB2) NP_963864.1:p.Asp390His
NM_201571.3:c.1228G>C (CACNB2) NP_963865.2:p.Asp410His
NM_201571.4:c.1228G>C (CACNB2) NP_963865.2:p.Asp410His
NM_201572.3:c.1156G>C (CACNB2) NP_963866.2:p.Asp386His
NM_201572.4:c.1156G>C (CACNB2) NP_963866.2:p.Asp386His
NM_201590.2:c.1150G>C (CACNB2) NP_963884.2:p.Asp384His
NM_201593.2:c.1198G>C (CACNB2) NP_963887.2:p.Asp400His
NM_201593.3:c.1198G>C (CACNB2) NP_963887.2:p.Asp400His
NM_201596.2:c.1312G>C (CACNB2) NP_963890.2:p.Asp438His
NM_201597.2:c.1240G>C (CACNB2) NP_963891.1:p.Asp414His
NM_201597.3:c.1240G>C (CACNB2) NP_963891.1:p.Asp414His
ENST00000282343.12:c.1228G>C (CACNB2) ENSP00000282343.8:p.Asp410His
ENST00000282343.13:c.1228G>C (CACNB2) ENSP00000282343.8:p.Asp410His
ENST00000324631.11:c.1312G>C (CACNB2) ENSP00000320025.7:p.Asp438His
ENST00000352115.10:c.1240G>C (CACNB2) ENSP00000344474.6:p.Asp414His
ENST00000377315.4:c.1168G>C (CACNB2) ENSP00000366532.4:p.Asp390His
ENST00000377315.5:c.1168G>C (CACNB2) ENSP00000366532.4:p.Asp390His
ENST00000377315.6:c.1168G>C (CACNB2) ENSP00000366532.4:p.Asp390His
ENST00000377319.7:c.1033G>C (CACNB2) ENSP00000366536.3:p.Asp345His
ENST00000377319.8:c.1033G>C (CACNB2) ENSP00000366536.3:p.Asp345His
ENST00000377319.9:c.1033G>C (CACNB2) ENSP00000366536.3:p.Asp345His
ENST00000377328.5:c.562G>C (CACNB2) ENSP00000366545.1:p.Asp188His
ENST00000377329.8:c.1150G>C (CACNB2) ENSP00000366546.4:p.Asp384His
ENST00000377331.6:c.1156G>C (CACNB2) ENSP00000366548.2:p.Asp386His
ENST00000377331.8:c.937G>C (CACNB2) ENSP00000366548.4:p.Asp313His
ENST00000396576.6:c.1147G>C (CACNB2) ENSP00000379821.2:p.Asp383His
ENST00000612134.4:c.1016G>C (CACNB2) ENSP00000480563.1:n.1016G>C
ENST00000612743.1:c.35-1075G>C (CACNB2) ENSP00000478676.1:n.35-1075G>C
ENST00000615785.4:c.397G>C (CACNB2) ENSP00000480260.1:p.Asp133His
ENST00000617363.4:c.1075G>C (CACNB2) ENSP00000479756.1:p.Asp359His
ENST00000643096.2:c.1114G>C (CACNB2) ENSP00000494209.2:p.Asp372His
ENST00000645287.1:c.1156G>C (CACNB2) ENSP00000496203.1:p.Asp386His
ENST00000645287.2:c.1156G>C (CACNB2) ENSP00000496203.1:p.Asp386His
ENST00000647168.2:c.*453G>C (CACNB2) ENSP00000495854.2:n.*453G>C
ENST00000650685.1:c.1054G>C (CACNB2) ENSP00000498460.1:p.Asp352His
ENST00000651330.1:c.*586G>C (CACNB2) ENSP00000498457.1:n.*586G>C
ENST00000651468.1:c.869G>C (CACNB2) ENSP00000498352.1:n.869G>C
ENST00000651928.1:c.*551G>C (CACNB2) ENSP00000499177.1:n.*551G>C
ENST00000652391.1:c.1132G>C (CACNB2) ENSP00000498938.1:p.Asp378His
ENST00000652478.1:c.*412G>C (CACNB2) ENSP00000498812.1:n.*412G>C
XM_005252588.2:c.1054G>C (CACNB2) XP_005252645.1:p.Asp352His
XM_005252588.4:c.1054G>C (CACNB2) XP_005252645.1:p.Asp352His
XM_005252591.2:c.472G>C (CACNB2) XP_005252648.1:p.Asp158His
XM_005252591.3:c.472G>C (CACNB2) XP_005252648.1:p.Asp158His
XM_006717502.2:c.1132G>C (CACNB2) XP_006717565.1:p.Asp378His
XM_006717502.3:c.1132G>C (CACNB2) XP_006717565.1:p.Asp378His
XM_011519659.1:c.1078G>C (CACNB2) XP_011517961.1:p.Asp360His
XM_011519659.2:c.1078G>C (CACNB2) XP_011517961.1:p.Asp360His
XM_011519660.1:c.1033G>C (CACNB2) XP_011517962.1:p.Asp345His
XM_017016625.1:c.472G>C (CACNB2) XP_016872114.1:p.Asp158His
XR_001747060.1:n.2423+3880C>G (NSUN6)
XR_001747198.1:n.1437G>C (CACNB2)
XR_930717.1:n.72+1005C>G