Canonical Allele Identifier: CA448708051

Gene: TUBB2A

Linked Data

• gnomAD v4: 6-3154604-G-A
• MyVariant Identifiers: chr6:g.3154838G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.3154604G>A , CM000668.2:g.3154604G>A	GRCh38
NC_000006.11:g.3154838G>A , CM000668.1:g.3154838G>A	GRCh37
NC_000006.10:g.3099837G>A	NCBI36
NG_042223.1:g.7946C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333628.4:c.597C>T MANE Select	ENSP00000369703.2:p.Thr199=
ENST00000679400.1:n.653C>T
ENST00000679907.1:n.985C>T
ENST00000680036.1:n.1379C>T
ENST00000680967.1:n.1687C>T
ENST00000333628.3:c.597C>T	ENSP00000369703.2:p.Thr199=
ENST00000489942.1:n.792C>T
NM_001069.2:c.597C>T	NP_001060.1:p.Thr199=
NM_001310315.1:c.342C>T	NP_001297244.1:p.Thr114=
NM_001069.3:c.597C>T MANE Select	NP_001060.1:p.Thr199=
NM_001310315.2:c.342C>T	NP_001297244.1:p.Thr114=