Canonical Allele Identifier: CA5430043
Community Standard Title: NM_201596.3(CACNB2):c.1488+22_1488+23dup
Gene: CACNB2 HGNC NCBI
NSUN6 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.18538387_18538388dup , CM000672.2:g.18538387_18538388dup GRCh38
NC_000010.10:g.18827316_18827317dup , CM000672.1:g.18827316_18827317dup GRCh37
NC_000010.9:g.18867322_18867323dup NCBI36
NG_016195.1:g.402711_402712dup

Transcript Alleles

HGVS Amino-acid Change
NM_201596.3:c.1488+22_1488+23dup (CACNB2) MANE Select NP_963890.2:n.1488+22_1488+23dup
ENST00000324631.13:c.1488+22_1488+23dup (CACNB2) MANE Select ENSP00000320025.8:n.1488+22_1488+23dup
NM_201590.3:c.1326+22_1326+23dup (CACNB2) MANE Plus Clinical NP_963884.2:n.1326+22_1326+23dup
ENST00000377329.10:c.1326+22_1326+23dup (CACNB2) MANE Plus Clinical ENSP00000366546.4:n.1326+22_1326+23dup
NM_000724.3:c.1323+22_1323+23dup (CACNB2) NP_000715.2:n.1323+22_1323+23dup
NM_000724.4:c.1323+22_1323+23dup (CACNB2) NP_000715.2:n.1323+22_1323+23dup
NM_001167945.1:c.1290+22_1290+23dup (CACNB2) NP_001161417.1:n.1290+22_1290+23dup
NM_001167945.2:c.1290+22_1290+23dup (CACNB2) NP_001161417.1:n.1290+22_1290+23dup
NM_001330060.1:c.1209+22_1209+23dup (CACNB2) NP_001316989.1:n.1209+22_1209+23dup
NM_001330060.2:c.1209+22_1209+23dup (CACNB2) NP_001316989.1:n.1209+22_1209+23dup
NM_201570.2:c.1344+22_1344+23dup (CACNB2) NP_963864.1:n.1344+22_1344+23dup
NM_201570.3:c.1344+22_1344+23dup (CACNB2) NP_963864.1:n.1344+22_1344+23dup
NM_201571.3:c.1404+22_1404+23dup (CACNB2) NP_963865.2:n.1404+22_1404+23dup
NM_201571.4:c.1404+22_1404+23dup (CACNB2) NP_963865.2:n.1404+22_1404+23dup
NM_201572.3:c.1332+22_1332+23dup (CACNB2) NP_963866.2:n.1332+22_1332+23dup
NM_201572.4:c.1332+22_1332+23dup (CACNB2) NP_963866.2:n.1332+22_1332+23dup
NM_201590.2:c.1326+22_1326+23dup (CACNB2) NP_963884.2:n.1326+22_1326+23dup
NM_201593.2:c.1374+22_1374+23dup (CACNB2) NP_963887.2:n.1374+22_1374+23dup
NM_201593.3:c.1374+22_1374+23dup (CACNB2) NP_963887.2:n.1374+22_1374+23dup
NM_201596.2:c.1488+22_1488+23dup (CACNB2) NP_963890.2:n.1488+22_1488+23dup
NM_201597.2:c.1416+22_1416+23dup (CACNB2) NP_963891.1:n.1416+22_1416+23dup
NM_201597.3:c.1416+22_1416+23dup (CACNB2) NP_963891.1:n.1416+22_1416+23dup
ENST00000282343.12:c.1404+22_1404+23dup (CACNB2) ENSP00000282343.8:n.1404+22_1404+23dup
ENST00000282343.13:c.1404+22_1404+23dup (CACNB2) ENSP00000282343.8:n.1404+22_1404+23dup
ENST00000324631.11:c.1488+22_1488+23dup (CACNB2) ENSP00000320025.7:n.1488+22_1488+23dup
ENST00000352115.10:c.1416+22_1416+23dup (CACNB2) ENSP00000344474.6:n.1416+22_1416+23dup
ENST00000377315.4:c.1344+22_1344+23dup (CACNB2) ENSP00000366532.4:n.1344+22_1344+23dup
ENST00000377315.5:c.1344+22_1344+23dup (CACNB2) ENSP00000366532.4:n.1344+22_1344+23dup
ENST00000377315.6:c.1344+22_1344+23dup (CACNB2) ENSP00000366532.4:n.1344+22_1344+23dup
ENST00000377319.7:c.1209+22_1209+23dup (CACNB2) ENSP00000366536.3:n.1209+22_1209+23dup
ENST00000377319.8:c.1209+22_1209+23dup (CACNB2) ENSP00000366536.3:n.1209+22_1209+23dup
ENST00000377319.9:c.1209+22_1209+23dup (CACNB2) ENSP00000366536.3:n.1209+22_1209+23dup
ENST00000377328.5:c.738+22_738+23dup (CACNB2) ENSP00000366545.1:n.738+22_738+23dup
ENST00000377329.8:c.1326+22_1326+23dup (CACNB2) ENSP00000366546.4:n.1326+22_1326+23dup
ENST00000377331.6:c.1332+22_1332+23dup (CACNB2) ENSP00000366548.2:n.1332+22_1332+23dup
ENST00000377331.8:c.1113+22_1113+23dup (CACNB2) ENSP00000366548.4:n.1113+22_1113+23dup
ENST00000396576.6:c.1323+22_1323+23dup (CACNB2) ENSP00000379821.2:n.1323+22_1323+23dup
ENST00000612134.4:c.1192+22_1192+23dup (CACNB2) ENSP00000480563.1:n.1192+22_1192+23dup
ENST00000612743.1:c.35-877_35-876dup (CACNB2) ENSP00000478676.1:n.35-877_35-876dup
ENST00000615785.4:c.573+22_573+23dup (CACNB2) ENSP00000480260.1:n.573+22_573+23dup
ENST00000617363.4:c.1251+22_1251+23dup (CACNB2) ENSP00000479756.1:n.1251+22_1251+23dup
ENST00000643096.2:c.1290+22_1290+23dup (CACNB2) ENSP00000494209.2:n.1290+22_1290+23dup
ENST00000645287.1:c.1332+22_1332+23dup (CACNB2) ENSP00000496203.1:n.1332+22_1332+23dup
ENST00000645287.2:c.1332+22_1332+23dup (CACNB2) ENSP00000496203.1:n.1332+22_1332+23dup
ENST00000647168.2:c.*629+22_*629+23dup (CACNB2) ENSP00000495854.2:n.*629+22_*629+23dup
ENST00000650685.1:c.1230+22_1230+23dup (CACNB2) ENSP00000498460.1:n.1230+22_1230+23dup
ENST00000651330.1:c.*762+22_*762+23dup (CACNB2) ENSP00000498457.1:n.*762+22_*762+23dup
ENST00000651468.1:c.1045+22_1045+23dup (CACNB2) ENSP00000498352.1:n.1045+22_1045+23dup
ENST00000651928.1:c.*727+22_*727+23dup (CACNB2) ENSP00000499177.1:n.*727+22_*727+23dup
ENST00000652391.1:c.1308+22_1308+23dup (CACNB2) ENSP00000498938.1:n.1308+22_1308+23dup
ENST00000652478.1:c.*588+22_*588+23dup (CACNB2) ENSP00000498812.1:n.*588+22_*588+23dup
XM_005252588.2:c.1230+22_1230+23dup (CACNB2) XP_005252645.1:n.1230+22_1230+23dup
XM_005252588.4:c.1230+22_1230+23dup (CACNB2) XP_005252645.1:n.1230+22_1230+23dup
XM_005252591.2:c.648+22_648+23dup (CACNB2) XP_005252648.1:n.648+22_648+23dup
XM_005252591.3:c.648+22_648+23dup (CACNB2) XP_005252648.1:n.648+22_648+23dup
XM_006717502.2:c.1308+22_1308+23dup (CACNB2) XP_006717565.1:n.1308+22_1308+23dup
XM_006717502.3:c.1308+22_1308+23dup (CACNB2) XP_006717565.1:n.1308+22_1308+23dup
XM_011519659.1:c.1254+22_1254+23dup (CACNB2) XP_011517961.1:n.1254+22_1254+23dup
XM_011519659.2:c.1254+22_1254+23dup (CACNB2) XP_011517961.1:n.1254+22_1254+23dup
XM_011519660.1:c.1209+22_1209+23dup (CACNB2) XP_011517962.1:n.1209+22_1209+23dup
XM_017016625.1:c.648+22_648+23dup (CACNB2) XP_016872114.1:n.648+22_648+23dup
XR_001747060.1:n.2423+3688_2423+3689dup (NSUN6)
XR_001747198.1:n.1613+22_1613+23dup (CACNB2)
XR_930717.1:n.72+813_72+814dup
Search 100 bp 5'
Search 100 bp 3'