Canonical Allele Identifier: CA448707466
Gene: TUBB2B HGNC NCBI

Linked Data

dbSNP Id: rs1192489724
gnomAD v2: 6-3225588-C-T
gnomAD v4: 6-3225354-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.3225354C>T , CM000668.2:g.3225354C>T GRCh38
NC_000006.11:g.3225588C>T , CM000668.1:g.3225588C>T GRCh37
NC_000006.10:g.3170587C>T NCBI36
NG_016715.1:g.7381G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000259818.8:c.735G>A MANE Select ENSP00000259818.6:p.Gln245=
ENST00000680070.1:n.1665G>A
ENST00000681707.1:n.1562G>A
ENST00000681757.1:n.1040G>A
ENST00000259818.7:c.735G>A ENSP00000259818.6:p.Gln245=
ENST00000473006.1:n.852G>A
NM_178012.4:c.735G>A NP_821080.1:p.Gln245=
XM_011514571.1:c.519G>A XP_011512873.1:p.Gln173=
NM_178012.5:c.735G>A MANE Select NP_821080.1:p.Gln245=