Canonical Allele Identifier: CA448707493
Gene: TUBB2B HGNC NCBI

Linked Data

dbSNP Id: rs1181279251
gnomAD v3: 6-3225204-G-A
gnomAD v4: 6-3225204-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.3225204G>A , CM000668.2:g.3225204G>A GRCh38
NC_000006.11:g.3225438G>A , CM000668.1:g.3225438G>A GRCh37
NC_000006.10:g.3170437G>A NCBI36
NG_016715.1:g.7531C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000259818.8:c.885C>T MANE Select ENSP00000259818.6:p.Asp295=
ENST00000680070.1:n.1815C>T
ENST00000681707.1:n.1712C>T
ENST00000681757.1:n.1190C>T
ENST00000259818.7:c.885C>T ENSP00000259818.6:p.Asp295=
ENST00000473006.1:n.1002C>T
NM_178012.4:c.885C>T NP_821080.1:p.Asp295=
XM_011514571.1:c.669C>T XP_011512873.1:p.Asp223=
NM_178012.5:c.885C>T MANE Select NP_821080.1:p.Asp295=