Canonical Allele Identifier: CA448708026

Gene: TUBB2A

Linked Data

• ClinVar Variation Id: 1674959
• ClinVar RCV Id: RCV002208648
• dbSNP Id: rs920044686
• MyVariant Identifiers: chr6:g.3154814C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.3154580C>T , CM000668.2:g.3154580C>T	GRCh38
NC_000006.11:g.3154814C>T , CM000668.1:g.3154814C>T	GRCh37
NC_000006.10:g.3099813C>T	NCBI36
NG_042223.1:g.7970G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333628.4:c.621G>A MANE Select	ENSP00000369703.2:p.Leu207=
ENST00000679400.1:n.677G>A
ENST00000679907.1:n.1009G>A
ENST00000680036.1:n.1403G>A
ENST00000680967.1:n.1711G>A
ENST00000333628.3:c.621G>A	ENSP00000369703.2:p.Leu207=
ENST00000489942.1:n.816G>A
NM_001069.2:c.621G>A	NP_001060.1:p.Leu207=
NM_001310315.1:c.366G>A	NP_001297244.1:p.Leu122=
NM_001069.3:c.621G>A MANE Select	NP_001060.1:p.Leu207=
NM_001310315.2:c.366G>A	NP_001297244.1:p.Leu122=