Canonical Allele Identifier: CA2677115463

Gene: TUBB2A

Linked Data

• gnomAD v4: 6-3154823-GCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.3154828_3154829del , CM000668.2:g.3154828_3154829del	GRCh38
NC_000006.11:g.3155062_3155063del , CM000668.1:g.3155062_3155063del	GRCh37
NC_000006.10:g.3100061_3100062del	NCBI36
NG_042223.1:g.7725_7726del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333628.4:c.376_377del MANE Select	ENSP00000369703.2:p.Ser126LeufsTer2
ENST00000679400.1:n.432_433del
ENST00000679907.1:n.764_765del
ENST00000680036.1:n.1158_1159del
ENST00000680967.1:n.1466_1467del
ENST00000333628.3:c.376_377del	ENSP00000369703.2:p.Ser126LeufsTer2
ENST00000489942.1:n.571_572del
NM_001069.2:c.376_377del	NP_001060.1:p.Ser126LeufsTer2
NM_001310315.1:c.121_122del	NP_001297244.1:p.Ser41LeufsTer2
NM_001069.3:c.376_377del MANE Select	NP_001060.1:p.Ser126LeufsTer2
NM_001310315.2:c.121_122del	NP_001297244.1:p.Ser41LeufsTer2