Canonical Allele Identifier: CA362592816

Gene: TUBB2A

Linked Data

• ClinVar Variation Id: 1321962
• ClinVar RCV Id: RCV001780042
• dbSNP Id: rs2113785610
• MyVariant Identifiers: chr6:g.3155032G>C (hg19) ; chr6:g.3154798G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.3154798G>C , CM000668.2:g.3154798G>C	GRCh38
NC_000006.11:g.3155032G>C , CM000668.1:g.3155032G>C	GRCh37
NC_000006.10:g.3100031G>C	NCBI36
NG_042223.1:g.7752C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333628.4:c.403C>G MANE Select	ENSP00000369703.2:p.Leu135Val
ENST00000679400.1:n.459C>G
ENST00000679907.1:n.791C>G
ENST00000680036.1:n.1185C>G
ENST00000680967.1:n.1493C>G
ENST00000333628.3:c.403C>G	ENSP00000369703.2:p.Leu135Val
ENST00000489942.1:n.598C>G
NM_001069.2:c.403C>G	NP_001060.1:p.Leu135Val
NM_001310315.1:c.148C>G	NP_001297244.1:p.Leu50Val
NM_001069.3:c.403C>G MANE Select	NP_001060.1:p.Leu135Val
NM_001310315.2:c.148C>G	NP_001297244.1:p.Leu50Val