Canonical Allele Identifier: CA362592744
Gene: TUBB2A HGNC NCBI

Linked Data

gnomAD v4: 6-3154762-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.3154762T>G , CM000668.2:g.3154762T>G GRCh38
NC_000006.11:g.3154996T>G , CM000668.1:g.3154996T>G GRCh37
NC_000006.10:g.3099995T>G NCBI36
NG_042223.1:g.7788A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000333628.4:c.439A>C MANE Select ENSP00000369703.2:p.Met147Leu
ENST00000679400.1:n.495A>C
ENST00000679907.1:n.827A>C
ENST00000680036.1:n.1221A>C
ENST00000680967.1:n.1529A>C
ENST00000333628.3:c.439A>C ENSP00000369703.2:p.Met147Leu
ENST00000489942.1:n.634A>C
NM_001069.2:c.439A>C NP_001060.1:p.Met147Leu
NM_001310315.1:c.184A>C NP_001297244.1:p.Met62Leu
NM_001069.3:c.439A>C MANE Select NP_001060.1:p.Met147Leu
NM_001310315.2:c.184A>C NP_001297244.1:p.Met62Leu