Canonical Allele Identifier: CA2580614819

Gene: TUBB2A

Linked Data

• ClinVar Variation Id: 1723748
• ClinVar RCV Id: RCV002306309

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.3154639_3154642del , CM000668.2:g.3154639_3154642del	GRCh38
NC_000006.11:g.3154873_3154876del , CM000668.1:g.3154873_3154876del	GRCh37
NC_000006.10:g.3099872_3099875del	NCBI36
NG_042223.1:g.7910_7913del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333628.4:c.561_564del MANE Select	ENSP00000369703.2:p.Val189ThrfsTer26
ENST00000679400.1:n.617_620del
ENST00000679907.1:n.949_952del
ENST00000680036.1:n.1343_1346del
ENST00000680967.1:n.1651_1654del
ENST00000333628.3:c.561_564del	ENSP00000369703.2:p.Val189ThrfsTer26
ENST00000489942.1:n.756_759del
NM_001069.2:c.561_564del	NP_001060.1:p.Val189ThrfsTer26
NM_001310315.1:c.306_309del	NP_001297244.1:p.Val104ThrfsTer26
NM_001069.3:c.561_564del MANE Select	NP_001060.1:p.Val189ThrfsTer26
NM_001310315.2:c.306_309del	NP_001297244.1:p.Val104ThrfsTer26