Canonical Allele Identifier: CA251306
Gene: TUBB2B HGNC NCBI

Linked Data

ClinVar Variation Id: 212497
dbSNP Id: rs797046075
gnomAD v3: 6-3225797-C-T
gnomAD v4: 6-3225797-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.3225797C>T , CM000668.2:g.3225797C>T GRCh38
NC_000006.11:g.3226031C>T , CM000668.1:g.3226031C>T GRCh37
NC_000006.10:g.3171030C>T NCBI36
NG_016715.1:g.6938G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000259818.8:c.292G>A MANE Select ENSP00000259818.6:p.Gly98Arg
ENST00000680070.1:n.1222G>A
ENST00000681707.1:n.1119G>A
ENST00000681757.1:n.597G>A
ENST00000259818.7:c.292G>A ENSP00000259818.6:p.Gly98Arg
ENST00000473006.1:n.409G>A
NM_178012.4:c.292G>A NP_821080.1:p.Gly98Arg
XM_011514571.1:c.76G>A XP_011512873.1:p.Gly26Arg
NM_178012.5:c.292G>A MANE Select NP_821080.1:p.Gly98Arg