Canonical Allele Identifier: CA448707722
Gene: TUBB2B HGNC NCBI

Linked Data

dbSNP Id: rs1403492339
gnomAD v3: 6-3225495-T-C
gnomAD v4: 6-3225495-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.3225495T>C , CM000668.2:g.3225495T>C GRCh38
NC_000006.11:g.3225729T>C , CM000668.1:g.3225729T>C GRCh37
NC_000006.10:g.3170728T>C NCBI36
NG_016715.1:g.7240A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000259818.8:c.594A>G MANE Select ENSP00000259818.6:p.Glu198=
ENST00000680070.1:n.1524A>G
ENST00000681707.1:n.1421A>G
ENST00000681757.1:n.899A>G
ENST00000259818.7:c.594A>G ENSP00000259818.6:p.Glu198=
ENST00000473006.1:n.711A>G
NM_178012.4:c.594A>G NP_821080.1:p.Glu198=
XM_011514571.1:c.378A>G XP_011512873.1:p.Glu126=
NM_178012.5:c.594A>G MANE Select NP_821080.1:p.Glu198=