Canonical Allele Identifier: CA448707812
Gene: TUBB2A HGNC NCBI

Linked Data

ClinVar Variation Id: 1904611
ClinVar RCV Id: RCV002577772
dbSNP Id: rs1419158266
gnomAD v2: 6-3154898-C-T
gnomAD v3: 6-3154664-C-T
gnomAD v4: 6-3154664-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.3154664C>T , CM000668.2:g.3154664C>T GRCh38
NC_000006.11:g.3154898C>T , CM000668.1:g.3154898C>T GRCh37
NC_000006.10:g.3099897C>T NCBI36
NG_042223.1:g.7886G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000333628.4:c.537G>A MANE Select ENSP00000369703.2:p.Val179=
ENST00000679400.1:n.593G>A
ENST00000679907.1:n.925G>A
ENST00000680036.1:n.1319G>A
ENST00000680967.1:n.1627G>A
ENST00000333628.3:c.537G>A ENSP00000369703.2:p.Val179=
ENST00000489942.1:n.732G>A
NM_001069.2:c.537G>A NP_001060.1:p.Val179=
NM_001310315.1:c.282G>A NP_001297244.1:p.Val94=
NM_001069.3:c.537G>A MANE Select NP_001060.1:p.Val179=
NM_001310315.2:c.282G>A NP_001297244.1:p.Val94=