Canonical Allele Identifier: CA448708017

Gene: TUBB2A

Linked Data

• dbSNP Id: rs1443565716
• gnomAD v4: 6-3154811-G-C
• MyVariant Identifiers: chr6:g.3155045G>C (hg19) ; chr6:g.3154811G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.3154811G>C , CM000668.2:g.3154811G>C	GRCh38
NC_000006.11:g.3155045G>C , CM000668.1:g.3155045G>C	GRCh37
NC_000006.10:g.3100044G>C	NCBI36
NG_042223.1:g.7739C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333628.4:c.390C>G MANE Select	ENSP00000369703.2:p.Leu130=
ENST00000679400.1:n.446C>G
ENST00000679907.1:n.778C>G
ENST00000680036.1:n.1172C>G
ENST00000680967.1:n.1480C>G
ENST00000333628.3:c.390C>G	ENSP00000369703.2:p.Leu130=
ENST00000489942.1:n.585C>G
NM_001069.2:c.390C>G	NP_001060.1:p.Leu130=
NM_001310315.1:c.135C>G	NP_001297244.1:p.Leu45=
NM_001069.3:c.390C>G MANE Select	NP_001060.1:p.Leu130=
NM_001310315.2:c.135C>G	NP_001297244.1:p.Leu45=