Canonical Allele Identifier: CA362587131
Gene: TUBB2B HGNC NCBI

Linked Data

gnomAD v4: 6-3225341-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.3225341G>C , CM000668.2:g.3225341G>C GRCh38
NC_000006.11:g.3225575G>C , CM000668.1:g.3225575G>C GRCh37
NC_000006.10:g.3170574G>C NCBI36
NG_016715.1:g.7394C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000259818.8:c.748C>G MANE Select ENSP00000259818.6:p.Leu250Val
ENST00000680070.1:n.1678C>G
ENST00000681707.1:n.1575C>G
ENST00000681757.1:n.1053C>G
ENST00000259818.7:c.748C>G ENSP00000259818.6:p.Leu250Val
ENST00000473006.1:n.865C>G
NM_178012.4:c.748C>G NP_821080.1:p.Leu250Val
XM_011514571.1:c.532C>G XP_011512873.1:p.Leu178Val
NM_178012.5:c.748C>G MANE Select NP_821080.1:p.Leu250Val