Canonical Allele Identifier: CA3619281
Gene: TUBB2B HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.3227483C>T
GRCh37 chr6:g.3227717C>T
gnomAD v2:
6:3227717 C / T
gnomAD v3:
6:3227483 C / T
gnomAD v4:
chr6-3227483-C-T
Joint Max Group AF 0.00004947 (NFE)
Genomes Max Group AF 0.00001171 (NFE)
Exomes Max Group AF 0.00004988 (NFE)
ClinVar Allele:
441022
ClinVar RCV:
RCV000518634
RCV001724037
ClinVar Variation:
448845
dbSNP:
767477213
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.3227483C>T , CM000668.2:g.3227483C>T GRCh38
NC_000006.11:g.3227717C>T , CM000668.1:g.3227717C>T GRCh37
NC_000006.10:g.3172716C>T NCBI36
NG_016715.1:g.5252G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000259818.8:c.57+4G>A MANE Select ENSP00000259818.6:n.57+4G>A
ENST00000680070.1:n.174G>A
ENST00000681757.1:n.71+4G>A
ENST00000259818.7:c.57+4G>A ENSP00000259818.6:n.57+4G>A
ENST00000473006.1:n.175-814G>A
NM_178012.4:c.57+4G>A NP_821080.1:n.57+4G>A
XM_011514571.1:c.-159-814G>A XP_011512873.1:n.-159-814G>A
NM_178012.5:c.57+4G>A MANE Select NP_821080.1:n.57+4G>A
Search 100 bp 5'
Search 100 bp 3'