Canonical Allele Identifier: CA2769790797
Gene: TUBB2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.3154745_3154748del , CM000668.2:g.3154745_3154748del GRCh38
NC_000006.11:g.3154979_3154982del , CM000668.1:g.3154979_3154982del GRCh37
NC_000006.10:g.3099978_3099981del NCBI36
NG_042223.1:g.7802_7805del

Transcript Alleles

HGVS Amino-acid Change
ENST00000333628.4:c.453_456del MANE Select ENSP00000369703.2:p.Ile152AlafsTer12
ENST00000679400.1:n.509_512del
ENST00000679907.1:n.841_844del
ENST00000680036.1:n.1235_1238del
ENST00000680967.1:n.1543_1546del
ENST00000333628.3:c.453_456del ENSP00000369703.2:p.Ile152AlafsTer12
ENST00000489942.1:n.648_651del
NM_001069.2:c.453_456del NP_001060.1:p.Ile152AlafsTer12
NM_001310315.1:c.198_201del NP_001297244.1:p.Ile67AlafsTer12
NM_001069.3:c.453_456del MANE Select NP_001060.1:p.Ile152AlafsTer12
NM_001310315.2:c.198_201del NP_001297244.1:p.Ile67AlafsTer12