tubulin, beta 2B class IIb [Source:HGNC Symbol;Acc:30829]
6
3224495
3231964
-1
p25.2
3224495
3227969
TUBB2B
TUBB2B-001
HGNC Symbol
HGNC transcript name
2
56.75
protein_coding
protein_coding
ensembl_hava
ensembl_hava
KNOWN
KNOWN
347733
30829
TUBB2B
NM_178012
27515
MSeqDR Master Exome Data Set M1: 25 entries from same gene
No.
Chr
Position
Reference
Variant
EnsemblTranscriptID
EnsemblGeneID
Gene_Start
Gene_End
EnsemblProteinID
Gene
strand
Uniprot
cChange
pChange
Nature
dbSNP
Freq
EVS
phastCons
SIFT
Polyphen
HGMD
type
samples
1
6
3224584
A
G
ENST00000259818
ENSG00000137285
3224495
3231964
ENSP00000259818
TUBB2B
-1
TBB2B_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
2
2
6
3224584
A
G
ENST00000473006
ENSG00000137285
3224495
3231964
-
TUBB2B
-1
-
c.1856T>C
p.I619T
non-syn
NA
-
-
-
-
-
-
het
2
3
6
3224598
A
G
ENST00000259818
ENSG00000137285
3224495
3231964
ENSP00000259818
TUBB2B
-1
TBB2B_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
1
4
6
3224598
A
G
ENST00000473006
ENSG00000137285
3224495
3231964
-
TUBB2B
-1
-
c.1842T>C
p.F614F
syn
NA
-
-
-
-
-
-
het
1
5
6
3224613
T
C
ENST00000259818
ENSG00000137285
3224495
3231964
ENSP00000259818
TUBB2B
-1
TBB2B_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
2
6
6
3224613
T
C
ENST00000473006
ENSG00000137285
3224495
3231964
-
TUBB2B
-1
-
c.1827A>G
p.Q609Q
syn
NA
-
-
-
-
-
-
het
2
7
6
3224627
A
+CG
ENST00000259818
ENSG00000137285
3224495
3231964
ENSP00000259818
TUBB2B
-1
TBB2B_HUMAN
-
-
3'_UTR
rs141781106
-
-
-
-
-
-
het
10
8
6
3224627
A
+CG
ENST00000473006
ENSG00000137285
3224495
3231964
-
TUBB2B
-1
-
c.1812_1813insCG
p.*605NA
non-syn
rs141781106
-
-
-
-
-
-
het
10
9
6
3224712
G
-AGAA
ENST00000259818
ENSG00000137285
3224495
3231964
ENSP00000259818
TUBB2B
-1
TBB2B_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
2
10
6
3224712
G
-AGAA
ENST00000473006
ENSG00000137285
3224495
3231964
-
TUBB2B
-1
-
c.1724_1727del
p.L576NA
non-syn
NA
-
-
-
-
-
-
het
2
11
6
3224824
G
-A
ENST00000259818
ENSG00000137285
3224495
3231964
ENSP00000259818
TUBB2B
-1
TBB2B_HUMAN
-
-
3'_UTR
rs10717744
-
-
-
-
-
-
het
237
12
6
3224824
G
-A
ENST00000259818
ENSG00000137285
3224495
3231964
ENSP00000259818
TUBB2B
-1
TBB2B_HUMAN
-
-
3'_UTR
rs10717744
-
-
-
-
-
-
hom
653
13
6
3224824
G
-A
ENST00000473006
ENSG00000137285
3224495
3231964
-
TUBB2B
-1
-
c.1615_1615del
p.S539NA
non-syn
rs10717744
-
-
-
-
-
-
het
237
14
6
3224824
G
-A
ENST00000473006
ENSG00000137285
3224495
3231964
-
TUBB2B
-1
-
c.1615_1615del
p.S539NA
non-syn
rs10717744
-
-
-
-
-
-
hom
653
15
6
3224920
C
G
ENST00000259818
ENSG00000137285
3224495
3231964
ENSP00000259818
TUBB2B
-1
TBB2B_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
2
16
6
3224920
C
G
ENST00000473006
ENSG00000137285
3224495
3231964
-
TUBB2B
-1
-
c.1520G>C
p.G507A
non-syn
NA
-
-
-
-
-
-
het
2
17
6
3224952
C
T
ENST00000259818
ENSG00000137285
3224495
3231964
ENSP00000259818
TUBB2B
-1
TBB2B_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
1
18
6
3224952
C
T
ENST00000473006
ENSG00000137285
3224495
3231964
-
TUBB2B
-1
-
c.1488G>A
p.E496E
syn
NA
-
-
-
-
-
-
het
1
19
6
3225001
C
+CCT
ENST00000259818
ENSG00000137285
3224495
3231964
ENSP00000259818
TUBB2B
-1
TBB2B_HUMAN
c.1321_1322insAGG
p.G441NA
non-syn
NA
-
-
lod=177:522
-
-
-
het
2
20
6
3225001
C
+CCT
ENST00000473006
ENSG00000137285
3224495
3231964
-
TUBB2B
-1
-
c.1438_1439insAGG
p.G480NA
non-syn
NA
-
-
lod=177:522
-
-
-
het
2
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