Canonical Allele Identifier: CA3619017
Gene: TUBB2A HGNC NCBI

Linked Data

dbSNP Id: rs201238213
gnomAD v2: 6-3154970-G-A
gnomAD v4: 6-3154736-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.3154736G>A , CM000668.2:g.3154736G>A GRCh38
NC_000006.11:g.3154970G>A , CM000668.1:g.3154970G>A GRCh37
NC_000006.10:g.3099969G>A NCBI36
NG_042223.1:g.7814C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000333628.4:c.465C>T MANE Select ENSP00000369703.2:p.Ile155=
ENST00000679400.1:n.521C>T
ENST00000679907.1:n.853C>T
ENST00000680036.1:n.1247C>T
ENST00000680967.1:n.1555C>T
ENST00000333628.3:c.465C>T ENSP00000369703.2:p.Ile155=
ENST00000489942.1:n.660C>T
NM_001069.2:c.465C>T NP_001060.1:p.Ile155=
NM_001310315.1:c.210C>T NP_001297244.1:p.Ile70=
NM_001069.3:c.465C>T MANE Select NP_001060.1:p.Ile155=
NM_001310315.2:c.210C>T NP_001297244.1:p.Ile70=