Canonical Allele Identifier: CA3619011

Gene: TUBB2A

Linked Data

• dbSNP Id: rs199973851
• ExAC: 6:3154883 G / T
• gnomAD v2: 6-3154883-G-T
• gnomAD v4: 6-3154649-G-T
• MyVariant Identifiers: chr6:g.3154883G>T (hg19) ; chr6:g.3154649G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.3154649G>T , CM000668.2:g.3154649G>T	GRCh38
NC_000006.11:g.3154883G>T , CM000668.1:g.3154883G>T	GRCh37
NC_000006.10:g.3099882G>T	NCBI36
NG_042223.1:g.7901C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333628.4:c.552C>A MANE Select	ENSP00000369703.2:p.Asn184Lys
ENST00000679400.1:n.608C>A
ENST00000679907.1:n.940C>A
ENST00000680036.1:n.1334C>A
ENST00000680967.1:n.1642C>A
ENST00000333628.3:c.552C>A	ENSP00000369703.2:p.Asn184Lys
ENST00000489942.1:n.747C>A
NM_001069.2:c.552C>A	NP_001060.1:p.Asn184Lys
NM_001310315.1:c.297C>A	NP_001297244.1:p.Asn99Lys
NM_001069.3:c.552C>A MANE Select	NP_001060.1:p.Asn184Lys
NM_001310315.2:c.297C>A	NP_001297244.1:p.Asn99Lys