Canonical Allele Identifier: CA362592589

Gene: TUBB2A

Linked Data

• dbSNP Id: rs1329669022
• gnomAD v2: 6-3154930-C-T
• gnomAD v4: 6-3154696-C-T
• MyVariant Identifiers: chr6:g.3154930C>T (hg19) ; chr6:g.3154696C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.3154696C>T , CM000668.2:g.3154696C>T	GRCh38
NC_000006.11:g.3154930C>T , CM000668.1:g.3154930C>T	GRCh37
NC_000006.10:g.3099929C>T	NCBI36
NG_042223.1:g.7854G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333628.4:c.505G>A MANE Select	ENSP00000369703.2:p.Val169Ile
ENST00000679400.1:n.561G>A
ENST00000679907.1:n.893G>A
ENST00000680036.1:n.1287G>A
ENST00000680967.1:n.1595G>A
ENST00000333628.3:c.505G>A	ENSP00000369703.2:p.Val169Ile
ENST00000489942.1:n.700G>A
NM_001069.2:c.505G>A	NP_001060.1:p.Val169Ile
NM_001310315.1:c.250G>A	NP_001297244.1:p.Val84Ile
NM_001069.3:c.505G>A MANE Select	NP_001060.1:p.Val169Ile
NM_001310315.2:c.250G>A	NP_001297244.1:p.Val84Ile