Canonical Allele Identifier: CA448707925
Gene: TUBB2A HGNC NCBI

Linked Data

dbSNP Id: rs1466954564
gnomAD v2: 6-3154988-G-A
gnomAD v4: 6-3154754-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.3154754G>A , CM000668.2:g.3154754G>A GRCh38
NC_000006.11:g.3154988G>A , CM000668.1:g.3154988G>A GRCh37
NC_000006.10:g.3099987G>A NCBI36
NG_042223.1:g.7796C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000333628.4:c.447C>T MANE Select ENSP00000369703.2:p.Thr149=
ENST00000679400.1:n.503C>T
ENST00000679907.1:n.835C>T
ENST00000680036.1:n.1229C>T
ENST00000680967.1:n.1537C>T
ENST00000333628.3:c.447C>T ENSP00000369703.2:p.Thr149=
ENST00000489942.1:n.642C>T
NM_001069.2:c.447C>T NP_001060.1:p.Thr149=
NM_001310315.1:c.192C>T NP_001297244.1:p.Thr64=
NM_001069.3:c.447C>T MANE Select NP_001060.1:p.Thr149=
NM_001310315.2:c.192C>T NP_001297244.1:p.Thr64=