Canonical Allele Identifier: CA362591913

Gene: TUBB2A

Linked Data

• ClinVar Variation Id: 2499861
• ClinVar RCV Id: RCV003223953
• MyVariant Identifiers: chr6:g.3154626A>G (hg19) ; chr6:g.3154392A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.3154392A>G , CM000668.2:g.3154392A>G	GRCh38
NC_000006.11:g.3154626A>G , CM000668.1:g.3154626A>G	GRCh37
NC_000006.10:g.3099625A>G	NCBI36
NG_042223.1:g.8158T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333628.4:c.809T>C MANE Select	ENSP00000369703.2:p.Phe270Ser
ENST00000679400.1:n.865T>C
ENST00000679907.1:n.1197T>C
ENST00000680036.1:n.1591T>C
ENST00000680967.1:n.1899T>C
ENST00000333628.3:c.809T>C	ENSP00000369703.2:p.Phe270Ser
NM_001069.2:c.809T>C	NP_001060.1:p.Phe270Ser
NM_001310315.1:c.554T>C	NP_001297244.1:p.Phe185Ser
NM_001069.3:c.809T>C MANE Select	NP_001060.1:p.Phe270Ser
NM_001310315.2:c.554T>C	NP_001297244.1:p.Phe185Ser