Canonical Allele Identifier: CA3619008

Gene: TUBB2A

Linked Data

• ClinVar Variation Id: 372867
• ClinVar RCV Id: RCV000413180 ; RCV000764643 ; RCV003558368
• dbSNP Id: rs1054331
• ExAC: 6:3154833 G / C
• gnomAD v2: 6-3154833-G-C
• gnomAD v3: 6-3154599-G-C
• gnomAD v4: 6-3154599-G-C
• MyVariant Identifiers: chr6:g.3154833G>C (hg19) ; chr6:g.3154599G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.3154599G>C , CM000668.2:g.3154599G>C	GRCh38
NC_000006.11:g.3154833G>C , CM000668.1:g.3154833G>C	GRCh37
NC_000006.10:g.3099832G>C	NCBI36
NG_042223.1:g.7951C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333628.4:c.602C>G MANE Select	ENSP00000369703.2:p.Ser201Cys
ENST00000679400.1:n.658C>G
ENST00000679907.1:n.990C>G
ENST00000680036.1:n.1384C>G
ENST00000680967.1:n.1692C>G
ENST00000333628.3:c.602C>G	ENSP00000369703.2:p.Ser201Cys
ENST00000489942.1:n.797C>G
NM_001069.2:c.602C>G	NP_001060.1:p.Ser201Cys
NM_001310315.1:c.347C>G	NP_001297244.1:p.Ser116Cys
NM_001069.3:c.602C>G MANE Select	NP_001060.1:p.Ser201Cys
NM_001310315.2:c.347C>G	NP_001297244.1:p.Ser116Cys