Canonical Allele Identifier: CA448707772

Gene: TUBB2A

Linked Data

• dbSNP Id: rs17849443
• gnomAD v2: 6-3154871-A-G
• gnomAD v4: 6-3154637-A-G
• MyVariant Identifiers: chr6:g.3154871A>G (hg19) ; chr6:g.3154637A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.3154637A>G , CM000668.2:g.3154637A>G	GRCh38
NC_000006.11:g.3154871A>G , CM000668.1:g.3154871A>G	GRCh37
NC_000006.10:g.3099870A>G	NCBI36
NG_042223.1:g.7913T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333628.4:c.564T>C MANE Select	ENSP00000369703.2:p.Ser188=
ENST00000679400.1:n.620T>C
ENST00000679907.1:n.952T>C
ENST00000680036.1:n.1346T>C
ENST00000680967.1:n.1654T>C
ENST00000333628.3:c.564T>C	ENSP00000369703.2:p.Ser188=
ENST00000489942.1:n.759T>C
NM_001069.2:c.564T>C	NP_001060.1:p.Ser188=
NM_001310315.1:c.309T>C	NP_001297244.1:p.Ser103=
NM_001069.3:c.564T>C MANE Select	NP_001060.1:p.Ser188=
NM_001310315.2:c.309T>C	NP_001297244.1:p.Ser103=