Canonical Allele Identifier: CA16618277

Gene: TUBB2A

Linked Data

• ClinVar Variation Id: 421739
• ClinVar RCV Id: RCV000480960 ; RCV000824991 ; RCV003985086
• dbSNP Id: rs1064795334
• gnomAD v2: 6-3155143-C-T
• gnomAD v3: 6-3154909-C-T
• gnomAD v4: 6-3154909-C-T
• COSMIC: COSM1077596
• MyVariant Identifiers: chr6:g.3155143C>T (hg19) ; chr6:g.3154909C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.3154909C>T , CM000668.2:g.3154909C>T	GRCh38
NC_000006.11:g.3155143C>T , CM000668.1:g.3155143C>T	GRCh37
NC_000006.10:g.3100142C>T	NCBI36
NG_042223.1:g.7641G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000333628.4:c.292G>A MANE Select	ENSP00000369703.2:p.Gly98Arg
ENST00000679400.1:n.348G>A
ENST00000679907.1:n.680G>A
ENST00000680036.1:n.1074G>A
ENST00000680967.1:n.1382G>A
ENST00000333628.3:c.292G>A	ENSP00000369703.2:p.Gly98Arg
ENST00000489942.1:n.487G>A
NM_001069.2:c.292G>A	NP_001060.1:p.Gly98Arg
NM_001310315.1:c.37G>A	NP_001297244.1:p.Gly13Arg
NM_001069.3:c.292G>A MANE Select	NP_001060.1:p.Gly98Arg
NM_001310315.2:c.37G>A	NP_001297244.1:p.Gly13Arg