Canonical Allele Identifier: CA448707577
Gene: TUBB2B HGNC NCBI

Linked Data

dbSNP Id: rs1757273548
gnomAD v3: 6-3225240-C-T
gnomAD v4: 6-3225240-C-T
MyVariant Identifiers: chr6:g.3225474C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.3225240C>T , CM000668.2:g.3225240C>T GRCh38
NC_000006.11:g.3225474C>T , CM000668.1:g.3225474C>T GRCh37
NC_000006.10:g.3170473C>T NCBI36
NG_016715.1:g.7495G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000259818.8:c.849G>A MANE Select ENSP00000259818.6:p.Ala283=
ENST00000680070.1:n.1779G>A
ENST00000681707.1:n.1676G>A
ENST00000681757.1:n.1154G>A
ENST00000259818.7:c.849G>A ENSP00000259818.6:p.Ala283=
ENST00000473006.1:n.966G>A
NM_178012.4:c.849G>A NP_821080.1:p.Ala283=
XM_011514571.1:c.633G>A XP_011512873.1:p.Ala211=
NM_178012.5:c.849G>A MANE Select NP_821080.1:p.Ala283=