Canonical Allele Identifier: CA3619026
Gene: TUBB2A HGNC NCBI

Linked Data

ClinVar Variation Id: 382143
ClinVar RCV Id: RCV000426682 RCV000871411
dbSNP Id: rs143644817
ExAC: 6:3155072 C / T
gnomAD v2: 6-3155072-C-T
gnomAD v3: 6-3154838-C-T
gnomAD v4: 6-3154838-C-T
MyVariant Identifiers: chr6:g.3155072C>T (hg19) chr6:g.3154838C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.3154838C>T , CM000668.2:g.3154838C>T GRCh38
NC_000006.11:g.3155072C>T , CM000668.1:g.3155072C>T GRCh37
NC_000006.10:g.3100071C>T NCBI36
NG_042223.1:g.7712G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000333628.4:c.363G>A MANE Select ENSP00000369703.2:p.Arg121=
ENST00000679400.1:n.419G>A
ENST00000679907.1:n.751G>A
ENST00000680036.1:n.1145G>A
ENST00000680967.1:n.1453G>A
ENST00000333628.3:c.363G>A ENSP00000369703.2:p.Arg121=
ENST00000489942.1:n.558G>A
NM_001069.2:c.363G>A NP_001060.1:p.Arg121=
NM_001310315.1:c.108G>A NP_001297244.1:p.Arg36=
NM_001069.3:c.363G>A MANE Select NP_001060.1:p.Arg121=
NM_001310315.2:c.108G>A NP_001297244.1:p.Arg36=
Search 100 bp 5'
Search 100 bp 3'