Canonical Allele Identifier: CA448707884

Gene: TUBB2A

Linked Data

• ClinVar Variation Id: 1629190
• ClinVar RCV Id: RCV002116534
• dbSNP Id: rs1762602282
• gnomAD v4: 6-3154721-T-C
• MyVariant Identifiers: chr6:g.3154955T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.3154721T>C , CM000668.2:g.3154721T>C	GRCh38
NC_000006.11:g.3154955T>C , CM000668.1:g.3154955T>C	GRCh37
NC_000006.10:g.3099954T>C	NCBI36
NG_042223.1:g.7829A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333628.4:c.480A>G MANE Select	ENSP00000369703.2:p.Pro160=
ENST00000679400.1:n.536A>G
ENST00000679907.1:n.868A>G
ENST00000680036.1:n.1262A>G
ENST00000680967.1:n.1570A>G
ENST00000333628.3:c.480A>G	ENSP00000369703.2:p.Pro160=
ENST00000489942.1:n.675A>G
NM_001069.2:c.480A>G	NP_001060.1:p.Pro160=
NM_001310315.1:c.225A>G	NP_001297244.1:p.Pro75=
NM_001069.3:c.480A>G MANE Select	NP_001060.1:p.Pro160=
NM_001310315.2:c.225A>G	NP_001297244.1:p.Pro75=