Canonical Allele Identifier: CA173781

Gene: TUBB2B

Linked Data

• ClinVar Variation Id: 160183
• ClinVar RCV Id: RCV000147840 ; RCV001719924 ; RCV002514848 ; RCV003398792
• dbSNP Id: rs201922441
• ExAC: 6:3225721 C / G
• gnomAD v2: 6-3225721-C-G
• gnomAD v3: 6-3225487-C-G
• gnomAD v4: 6-3225487-C-G
• MyVariant Identifiers: chr6:g.3225721C>G (hg19) ; chr6:g.3225487C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.3225487C>G , CM000668.2:g.3225487C>G	GRCh38
NC_000006.11:g.3225721C>G , CM000668.1:g.3225721C>G	GRCh37
NC_000006.10:g.3170720C>G	NCBI36
NG_016715.1:g.7248G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259818.8:c.602G>C MANE Select	ENSP00000259818.6:p.Cys201Ser
ENST00000680070.1:n.1532G>C
ENST00000681707.1:n.1429G>C
ENST00000681757.1:n.907G>C
ENST00000259818.7:c.602G>C	ENSP00000259818.6:p.Cys201Ser
ENST00000473006.1:n.719G>C
NM_178012.4:c.602G>C	NP_821080.1:p.Cys201Ser
XM_011514571.1:c.386G>C	XP_011512873.1:p.Cys129Ser
NM_178012.5:c.602G>C MANE Select	NP_821080.1:p.Cys201Ser