Canonical Allele Identifier: CA362592851

Gene: TUBB2A

Linked Data

• MyVariant Identifiers: chr6:g.3155047G>C (hg19) ; chr6:g.3154813G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.3154813G>C , CM000668.2:g.3154813G>C	GRCh38
NC_000006.11:g.3155047G>C , CM000668.1:g.3155047G>C	GRCh37
NC_000006.10:g.3100046G>C	NCBI36
NG_042223.1:g.7737C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333628.4:c.388C>G MANE Select	ENSP00000369703.2:p.Leu130Val
ENST00000679400.1:n.444C>G
ENST00000679907.1:n.776C>G
ENST00000680036.1:n.1170C>G
ENST00000680967.1:n.1478C>G
ENST00000333628.3:c.388C>G	ENSP00000369703.2:p.Leu130Val
ENST00000489942.1:n.583C>G
NM_001069.2:c.388C>G	NP_001060.1:p.Leu130Val
NM_001310315.1:c.133C>G	NP_001297244.1:p.Leu45Val
NM_001069.3:c.388C>G MANE Select	NP_001060.1:p.Leu130Val
NM_001310315.2:c.133C>G	NP_001297244.1:p.Leu45Val