Canonical Allele Identifier: CA448707915

Gene: TUBB2A

Linked Data

• dbSNP Id: rs1195989194
• gnomAD v3: 6-3154505-G-A
• gnomAD v4: 6-3154505-G-A
• MyVariant Identifiers: chr6:g.3154739G>A (hg19) ; chr6:g.3154505G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.3154505G>A , CM000668.2:g.3154505G>A	GRCh38
NC_000006.11:g.3154739G>A , CM000668.1:g.3154739G>A	GRCh37
NC_000006.10:g.3099738G>A	NCBI36
NG_042223.1:g.8045C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333628.4:c.696C>T MANE Select	ENSP00000369703.2:p.Thr232=
ENST00000679400.1:n.752C>T
ENST00000679907.1:n.1084C>T
ENST00000680036.1:n.1478C>T
ENST00000680967.1:n.1786C>T
ENST00000333628.3:c.696C>T	ENSP00000369703.2:p.Thr232=
NM_001069.2:c.696C>T	NP_001060.1:p.Thr232=
NM_001310315.1:c.441C>T	NP_001297244.1:p.Thr147=
NM_001069.3:c.696C>T MANE Select	NP_001060.1:p.Thr232=
NM_001310315.2:c.441C>T	NP_001297244.1:p.Thr147=