Canonical Allele Identifier: CA3619009
Gene: TUBB2A HGNC NCBI

Linked Data

ClinVar Variation Id: 378835
ClinVar RCV Id: RCV000439949 RCV000860749 RCV002244872
dbSNP Id: rs17849443
ExAC: 6:3154871 A / C
gnomAD v2: 6-3154871-A-C
gnomAD v3: 6-3154637-A-C
gnomAD v4: 6-3154637-A-C
MyVariant Identifiers: chr6:g.3154871A>C (hg19) chr6:g.3154637A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.3154637A>C , CM000668.2:g.3154637A>C GRCh38
NC_000006.11:g.3154871A>C , CM000668.1:g.3154871A>C GRCh37
NC_000006.10:g.3099870A>C NCBI36
NG_042223.1:g.7913T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000333628.4:c.564T>G MANE Select ENSP00000369703.2:p.Ser188=
ENST00000679400.1:n.620T>G
ENST00000679907.1:n.952T>G
ENST00000680036.1:n.1346T>G
ENST00000680967.1:n.1654T>G
ENST00000333628.3:c.564T>G ENSP00000369703.2:p.Ser188=
ENST00000489942.1:n.759T>G
NM_001069.2:c.564T>G NP_001060.1:p.Ser188=
NM_001310315.1:c.309T>G NP_001297244.1:p.Ser103=
NM_001069.3:c.564T>G MANE Select NP_001060.1:p.Ser188=
NM_001310315.2:c.309T>G NP_001297244.1:p.Ser103=
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