Canonical Allele Identifier: CA448707817
Gene: TUBB2A HGNC NCBI

Linked Data

ClinVar Variation Id: 1594303
ClinVar RCV Id: RCV002105608
dbSNP Id: rs768100052
gnomAD v2: 6-3154901-C-T
gnomAD v3: 6-3154667-C-T
gnomAD v4: 6-3154667-C-T
MyVariant Identifiers: chr6:g.3154901C>T (hg19) chr6:g.3154667C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.3154667C>T , CM000668.2:g.3154667C>T GRCh38
NC_000006.11:g.3154901C>T , CM000668.1:g.3154901C>T GRCh37
NC_000006.10:g.3099900C>T NCBI36
NG_042223.1:g.7883G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000333628.4:c.534G>A MANE Select ENSP00000369703.2:p.Thr178=
ENST00000679400.1:n.590G>A
ENST00000679907.1:n.922G>A
ENST00000680036.1:n.1316G>A
ENST00000680967.1:n.1624G>A
ENST00000333628.3:c.534G>A ENSP00000369703.2:p.Thr178=
ENST00000489942.1:n.729G>A
NM_001069.2:c.534G>A NP_001060.1:p.Thr178=
NM_001310315.1:c.279G>A NP_001297244.1:p.Thr93=
NM_001069.3:c.534G>A MANE Select NP_001060.1:p.Thr178=
NM_001310315.2:c.279G>A NP_001297244.1:p.Thr93=
Search 100 bp 5'
Search 100 bp 3'