Canonical Allele Identifier: CA251181
Gene: TUBB2B HGNC NCBI

Linked Data

ClinVar Variation Id: 160182
ClinVar RCV Id: RCV000987651 RCV001566646
dbSNP Id: rs146544321
ExAC: 6:3225770 C / T
gnomAD v2: 6-3225770-C-T
gnomAD v3: 6-3225536-C-T
gnomAD v4: 6-3225536-C-T
MyVariant Identifiers: chr6:g.3225770C>T (hg19) chr6:g.3225536C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.3225536C>T , CM000668.2:g.3225536C>T GRCh38
NC_000006.11:g.3225770C>T , CM000668.1:g.3225770C>T GRCh37
NC_000006.10:g.3170769C>T NCBI36
NG_016715.1:g.7199G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000259818.8:c.553G>A MANE Select ENSP00000259818.6:p.Ala185Thr
ENST00000680070.1:n.1483G>A
ENST00000681707.1:n.1380G>A
ENST00000681757.1:n.858G>A
ENST00000259818.7:c.553G>A ENSP00000259818.6:p.Ala185Thr
ENST00000473006.1:n.670G>A
NM_178012.4:c.553G>A NP_821080.1:p.Ala185Thr
XM_011514571.1:c.337G>A XP_011512873.1:p.Ala113Thr
NM_178012.5:c.553G>A MANE Select NP_821080.1:p.Ala185Thr
Search 100 bp 5'
Search 100 bp 3'