Canonical Allele Identifier: CA362592472

Gene: TUBB2A

Linked Data

• gnomAD v4: 6-3154644-G-A
• MyVariant Identifiers: chr6:g.3154878G>A (hg19) ; chr6:g.3154644G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.3154644G>A , CM000668.2:g.3154644G>A	GRCh38
NC_000006.11:g.3154878G>A , CM000668.1:g.3154878G>A	GRCh37
NC_000006.10:g.3099877G>A	NCBI36
NG_042223.1:g.7906C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333628.4:c.557C>T MANE Select	ENSP00000369703.2:p.Thr186Ile
ENST00000679400.1:n.613C>T
ENST00000679907.1:n.945C>T
ENST00000680036.1:n.1339C>T
ENST00000680967.1:n.1647C>T
ENST00000333628.3:c.557C>T	ENSP00000369703.2:p.Thr186Ile
ENST00000489942.1:n.752C>T
NM_001069.2:c.557C>T	NP_001060.1:p.Thr186Ile
NM_001310315.1:c.302C>T	NP_001297244.1:p.Thr101Ile
NM_001069.3:c.557C>T MANE Select	NP_001060.1:p.Thr186Ile
NM_001310315.2:c.302C>T	NP_001297244.1:p.Thr101Ile