Canonical Allele Identifier: CA3619016

Gene: TUBB2A

Linked Data

• dbSNP Id: rs760041396
• ExAC: 6:3154949 G / A
• gnomAD v2: 6-3154949-G-A
• gnomAD v3: 6-3154715-G-A
• gnomAD v4: 6-3154715-G-A
• MyVariant Identifiers: chr6:g.3154949G>A (hg19) ; chr6:g.3154715G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.3154715G>A , CM000668.2:g.3154715G>A	GRCh38
NC_000006.11:g.3154949G>A , CM000668.1:g.3154949G>A	GRCh37
NC_000006.10:g.3099948G>A	NCBI36
NG_042223.1:g.7835C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333628.4:c.486C>T MANE Select	ENSP00000369703.2:p.Arg162=
ENST00000679400.1:n.542C>T
ENST00000679907.1:n.874C>T
ENST00000680036.1:n.1268C>T
ENST00000680967.1:n.1576C>T
ENST00000333628.3:c.486C>T	ENSP00000369703.2:p.Arg162=
ENST00000489942.1:n.681C>T
NM_001069.2:c.486C>T	NP_001060.1:p.Arg162=
NM_001310315.1:c.231C>T	NP_001297244.1:p.Arg77=
NM_001069.3:c.486C>T MANE Select	NP_001060.1:p.Arg162=
NM_001310315.2:c.231C>T	NP_001297244.1:p.Arg77=