Canonical Allele Identifier: CA362592277
Gene: TUBB2A HGNC NCBI

Linked Data

ClinVar Variation Id: 1720369
ClinVar RCV Id: RCV002298128
dbSNP Id: rs1762599981
gnomAD v3: 6-3154560-G-A
gnomAD v4: 6-3154560-G-A
MyVariant Identifiers: chr6:g.3154794G>A (hg19) chr6:g.3154560G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.3154560G>A , CM000668.2:g.3154560G>A GRCh38
NC_000006.11:g.3154794G>A , CM000668.1:g.3154794G>A GRCh37
NC_000006.10:g.3099793G>A NCBI36
NG_042223.1:g.7990C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000333628.4:c.641C>T MANE Select ENSP00000369703.2:p.Thr214Ile
ENST00000679400.1:n.697C>T
ENST00000679907.1:n.1029C>T
ENST00000680036.1:n.1423C>T
ENST00000680967.1:n.1731C>T
ENST00000333628.3:c.641C>T ENSP00000369703.2:p.Thr214Ile
NM_001069.2:c.641C>T NP_001060.1:p.Thr214Ile
NM_001310315.1:c.386C>T NP_001297244.1:p.Thr129Ile
NM_001069.3:c.641C>T MANE Select NP_001060.1:p.Thr214Ile
NM_001310315.2:c.386C>T NP_001297244.1:p.Thr129Ile
Search 100 bp 5'
Search 100 bp 3'