Canonical Allele Identifier: CA3619178
Gene: TUBB2B HGNC NCBI

Linked Data

ClinVar Variation Id: 432230
ClinVar RCV Id: RCV000498782
dbSNP Id: rs756024033
ExAC: 6:3225572 G / T
gnomAD v2: 6-3225572-G-T
gnomAD v4: 6-3225338-G-T
MyVariant Identifiers: chr6:g.3225572G>T (hg19) chr6:g.3225338G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.3225338G>T , CM000668.2:g.3225338G>T GRCh38
NC_000006.11:g.3225572G>T , CM000668.1:g.3225572G>T GRCh37
NC_000006.10:g.3170571G>T NCBI36
NG_016715.1:g.7397C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000259818.8:c.751C>A MANE Select ENSP00000259818.6:p.Arg251Ser
ENST00000680070.1:n.1681C>A
ENST00000681707.1:n.1578C>A
ENST00000681757.1:n.1056C>A
ENST00000259818.7:c.751C>A ENSP00000259818.6:p.Arg251Ser
ENST00000473006.1:n.868C>A
NM_178012.4:c.751C>A NP_821080.1:p.Arg251Ser
XM_011514571.1:c.535C>A XP_011512873.1:p.Arg179Ser
NM_178012.5:c.751C>A MANE Select NP_821080.1:p.Arg251Ser
Search 100 bp 5'
Search 100 bp 3'