Canonical Allele Identifier: CA448707930
Gene: TUBB2A HGNC NCBI

Linked Data

ClinVar Variation Id: 2181401
ClinVar RCV Id: RCV002606130
dbSNP Id: rs1429556932
gnomAD v3: 6-3154511-C-T
gnomAD v4: 6-3154511-C-T
MyVariant Identifiers: chr6:g.3154745C>T (hg19) chr6:g.3154511C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.3154511C>T , CM000668.2:g.3154511C>T GRCh38
NC_000006.11:g.3154745C>T , CM000668.1:g.3154745C>T GRCh37
NC_000006.10:g.3099744C>T NCBI36
NG_042223.1:g.8039G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000333628.4:c.690G>A MANE Select ENSP00000369703.2:p.Ser230=
ENST00000679400.1:n.746G>A
ENST00000679907.1:n.1078G>A
ENST00000680036.1:n.1472G>A
ENST00000680967.1:n.1780G>A
ENST00000333628.3:c.690G>A ENSP00000369703.2:p.Ser230=
NM_001069.2:c.690G>A NP_001060.1:p.Ser230=
NM_001310315.1:c.435G>A NP_001297244.1:p.Ser145=
NM_001069.3:c.690G>A MANE Select NP_001060.1:p.Ser230=
NM_001310315.2:c.435G>A NP_001297244.1:p.Ser145=
Search 100 bp 5'
Search 100 bp 3'