Canonical Allele Identifier: CA362587082
Gene: TUBB2B HGNC NCBI

Linked Data

gnomAD v3: 6-3225332-G-C
gnomAD v4: 6-3225332-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.3225332G>C , CM000668.2:g.3225332G>C GRCh38
NC_000006.11:g.3225566G>C , CM000668.1:g.3225566G>C GRCh37
NC_000006.10:g.3170565G>C NCBI36
NG_016715.1:g.7403C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000259818.8:c.757C>G MANE Select ENSP00000259818.6:p.Leu253Val
ENST00000680070.1:n.1687C>G
ENST00000681707.1:n.1584C>G
ENST00000681757.1:n.1062C>G
ENST00000259818.7:c.757C>G ENSP00000259818.6:p.Leu253Val
ENST00000473006.1:n.874C>G
NM_178012.4:c.757C>G NP_821080.1:p.Leu253Val
XM_011514571.1:c.541C>G XP_011512873.1:p.Leu181Val
NM_178012.5:c.757C>G MANE Select NP_821080.1:p.Leu253Val