Canonical Allele Identifier: CA16605035
Gene: TUBB2B HGNC NCBI

Linked Data

ClinVar Variation Id: 378836
dbSNP Id: rs1057520391
gnomAD v3: 6-3225556-G-A
gnomAD v4: 6-3225556-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.3225556G>A , CM000668.2:g.3225556G>A GRCh38
NC_000006.11:g.3225790G>A , CM000668.1:g.3225790G>A GRCh37
NC_000006.10:g.3170789G>A NCBI36
NG_016715.1:g.7179C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000259818.8:c.533C>T MANE Select ENSP00000259818.6:p.Thr178Met
ENST00000680070.1:n.1463C>T
ENST00000681707.1:n.1360C>T
ENST00000681757.1:n.838C>T
ENST00000259818.7:c.533C>T ENSP00000259818.6:p.Thr178Met
ENST00000473006.1:n.650C>T
NM_178012.4:c.533C>T NP_821080.1:p.Thr178Met
XM_011514571.1:c.317C>T XP_011512873.1:p.Thr106Met
NM_178012.5:c.533C>T MANE Select NP_821080.1:p.Thr178Met