Canonical Allele Identifier: CA3619192
Gene: TUBB2B HGNC NCBI

Linked Data

ClinVar Variation Id: 1408957
ClinVar RCV Id: RCV001910232
dbSNP Id: rs2259136
gnomAD v2: 6-3225759-C-T
gnomAD v3: 6-3225525-C-T
gnomAD v4: 6-3225525-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.3225525C>T , CM000668.2:g.3225525C>T GRCh38
NC_000006.11:g.3225759C>T , CM000668.1:g.3225759C>T GRCh37
NC_000006.10:g.3170758C>T NCBI36
NG_016715.1:g.7210G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000259818.8:c.564G>A MANE Select ENSP00000259818.6:p.Ser188=
ENST00000680070.1:n.1494G>A
ENST00000681707.1:n.1391G>A
ENST00000681757.1:n.869G>A
ENST00000259818.7:c.564G>A ENSP00000259818.6:p.Ser188=
ENST00000473006.1:n.681G>A
NM_178012.4:c.564G>A NP_821080.1:p.Ser188=
XM_011514571.1:c.348G>A XP_011512873.1:p.Ser116=
NM_178012.5:c.564G>A MANE Select NP_821080.1:p.Ser188=