Canonical Allele Identifier: CA362592557

Gene: TUBB2A

Linked Data

• ClinVar Variation Id: 1253961
• ClinVar RCV Id: RCV001665105
• dbSNP Id: rs2113785529
• MyVariant Identifiers: chr6:g.3154917G>A (hg19) ; chr6:g.3154683G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.3154683G>A , CM000668.2:g.3154683G>A	GRCh38
NC_000006.11:g.3154917G>A , CM000668.1:g.3154917G>A	GRCh37
NC_000006.10:g.3099916G>A	NCBI36
NG_042223.1:g.7867C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333628.4:c.518C>T MANE Select	ENSP00000369703.2:p.Pro173Leu
ENST00000679400.1:n.574C>T
ENST00000679907.1:n.906C>T
ENST00000680036.1:n.1300C>T
ENST00000680967.1:n.1608C>T
ENST00000333628.3:c.518C>T	ENSP00000369703.2:p.Pro173Leu
ENST00000489942.1:n.713C>T
NM_001069.2:c.518C>T	NP_001060.1:p.Pro173Leu
NM_001310315.1:c.263C>T	NP_001297244.1:p.Pro88Leu
NM_001069.3:c.518C>T MANE Select	NP_001060.1:p.Pro173Leu
NM_001310315.2:c.263C>T	NP_001297244.1:p.Pro88Leu