Canonical Allele Identifier: CA2677115462
Gene: TUBB2A HGNC NCBI

Linked Data

gnomAD v4: 6-3154778-GC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.3154784del , CM000668.2:g.3154784del GRCh38
NC_000006.11:g.3155018del , CM000668.1:g.3155018del GRCh37
NC_000006.10:g.3100017del NCBI36
NG_042223.1:g.7771del

Transcript Alleles

HGVS Amino-acid Change
ENST00000333628.4:c.422del MANE Select ENSP00000369703.2:p.Gly141AlafsTer24
ENST00000679400.1:n.478del
ENST00000679907.1:n.810del
ENST00000680036.1:n.1204del
ENST00000680967.1:n.1512del
ENST00000333628.3:c.422del ENSP00000369703.2:p.Gly141AlafsTer24
ENST00000489942.1:n.617del
NM_001069.2:c.422del NP_001060.1:p.Gly141AlafsTer24
NM_001310315.1:c.167del NP_001297244.1:p.Gly56AlafsTer24
NM_001069.3:c.422del MANE Select NP_001060.1:p.Gly141AlafsTer24
NM_001310315.2:c.167del NP_001297244.1:p.Gly56AlafsTer24
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