Canonical Allele Identifier: CA3619205
Gene: TUBB2B HGNC NCBI

Linked Data

ClinVar Variation Id: 383792
ClinVar RCV Id: RCV000434627 RCV002062649
dbSNP Id: rs111726475
ExAC: 6:3225969 A / G
gnomAD v2: 6-3225969-A-G
gnomAD v3: 6-3225735-A-G
gnomAD v4: 6-3225735-A-G
MyVariant Identifiers: chr6:g.3225969A>G (hg19) chr6:g.3225735A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.3225735A>G , CM000668.2:g.3225735A>G GRCh38
NC_000006.11:g.3225969A>G , CM000668.1:g.3225969A>G GRCh37
NC_000006.10:g.3170968A>G NCBI36
NG_016715.1:g.7000T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000259818.8:c.354T>C MANE Select ENSP00000259818.6:p.Asp118=
ENST00000680070.1:n.1284T>C
ENST00000681707.1:n.1181T>C
ENST00000681757.1:n.659T>C
ENST00000259818.7:c.354T>C ENSP00000259818.6:p.Asp118=
ENST00000473006.1:n.471T>C
NM_178012.4:c.354T>C NP_821080.1:p.Asp118=
XM_011514571.1:c.138T>C XP_011512873.1:p.Asp46=
NM_178012.5:c.354T>C MANE Select NP_821080.1:p.Asp118=
Search 100 bp 5'
Search 100 bp 3'