Canonical Allele Identifier: CA2580074206
Gene: TUBB2B HGNC NCBI

Linked Data

ClinVar Variation Id: 1951139
ClinVar RCV Id: RCV002694955

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.3225741del , CM000668.2:g.3225741del GRCh38
NC_000006.11:g.3225975del , CM000668.1:g.3225975del GRCh37
NC_000006.10:g.3170974del NCBI36
NG_016715.1:g.6995del

Transcript Alleles

HGVS Amino-acid Change
ENST00000259818.8:c.349del MANE Select ENSP00000259818.6:p.Leu117TrpfsTer4
ENST00000680070.1:n.1279del
ENST00000681707.1:n.1176del
ENST00000681757.1:n.654del
ENST00000259818.7:c.349del ENSP00000259818.6:p.Leu117TrpfsTer4
ENST00000473006.1:n.466del
NM_178012.4:c.349del NP_821080.1:p.Leu117TrpfsTer4
XM_011514571.1:c.133del XP_011512873.1:p.Leu45TrpfsTer4
NM_178012.5:c.349del MANE Select NP_821080.1:p.Leu117TrpfsTer4