Canonical Allele Identifier: CA448707873
Gene: TUBB2A HGNC NCBI

Linked Data

dbSNP Id: rs1348067441
gnomAD v2: 6-3154946-G-A
gnomAD v4: 6-3154712-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.3154712G>A , CM000668.2:g.3154712G>A GRCh38
NC_000006.11:g.3154946G>A , CM000668.1:g.3154946G>A GRCh37
NC_000006.10:g.3099945G>A NCBI36
NG_042223.1:g.7838C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000333628.4:c.489C>T MANE Select ENSP00000369703.2:p.Ile163=
ENST00000679400.1:n.545C>T
ENST00000679907.1:n.877C>T
ENST00000680036.1:n.1271C>T
ENST00000680967.1:n.1579C>T
ENST00000333628.3:c.489C>T ENSP00000369703.2:p.Ile163=
ENST00000489942.1:n.684C>T
NM_001069.2:c.489C>T NP_001060.1:p.Ile163=
NM_001310315.1:c.234C>T NP_001297244.1:p.Ile78=
NM_001069.3:c.489C>T MANE Select NP_001060.1:p.Ile163=
NM_001310315.2:c.234C>T NP_001297244.1:p.Ile78=