Canonical Allele Identifier: CA362587630
Gene: TUBB2B HGNC NCBI

Linked Data

ClinVar Variation Id: 3024227
ClinVar RCV Id: RCV003883273
dbSNP Id: rs1468452245
gnomAD v2: 6-3225691-C-T
gnomAD v4: 6-3225457-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.3225457C>T , CM000668.2:g.3225457C>T GRCh38
NC_000006.11:g.3225691C>T , CM000668.1:g.3225691C>T GRCh37
NC_000006.10:g.3170690C>T NCBI36
NG_016715.1:g.7278G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000259818.8:c.632G>A MANE Select ENSP00000259818.6:p.Cys211Tyr
ENST00000680070.1:n.1562G>A
ENST00000681707.1:n.1459G>A
ENST00000681757.1:n.937G>A
ENST00000259818.7:c.632G>A ENSP00000259818.6:p.Cys211Tyr
ENST00000473006.1:n.749G>A
NM_178012.4:c.632G>A NP_821080.1:p.Cys211Tyr
XM_011514571.1:c.416G>A XP_011512873.1:p.Cys139Tyr
NM_178012.5:c.632G>A MANE Select NP_821080.1:p.Cys211Tyr