CRYAB crystallin alpha B

Information
Symbol
CRYAB
Type
protein-coding
Description
crystallin alpha B
Entrez Gene ID
1410
Genome
hg19
Position
chr11:111,779,349-111,784,573
Genome
hg38
Position
chr11:111,908,625-111,913,849
MIM
123590 OMIM
HGNC
HGNC:2389 HGNC
Ensembl
ENSG00000109846 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 22
Likely pathogenic 1 8
Benign 4 22
Likely benign 0 156
Conflicting classifications of pathogenicity 0 30
Uncertain significance 0 318
Ranking
ClinVar
0
0
154
348
20
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
TypeID
SYNONYM CMD1II
SYNONYM CRYA2
SYNONYM CTPP2
SYNONYM CTRCT16
SYNONYM HEL-S-101
SYNONYM HSPB5
SYNONYM MFM2
MIM 123590 OMIM
HGNC HGNC:2389 HGNC
Ensembl ENSG00000109846 Ensembl
AllianceGenome HGNC:2389
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000525823.1 hg38 chr11 111,908,620 111,910,893 2,274
ENST00000651164.1 hg38 chr11 111,908,625 111,911,983 3,359
ENST00000526180.6 hg38 chr11 111,908,623 111,913,188 4,566
ENST00000527950.5 hg38 chr11 111,908,623 111,923,722 15,100
ENST00000533971.2 hg38 chr11 111,908,658 111,913,184 4,527
ENST00000651650.1 hg38 chr11 111,908,625 111,910,852 2,228
ENST00000533475.6 hg38 chr11 111,908,625 111,913,849 5,225
ENST00000650687.2 hg38 chr11 111,908,564 111,911,770 3,207
ENST00000227251.7 hg38 chr11 111,908,629 111,912,010 3,382
ENST00000531198.5 hg38 chr11 111,908,646 111,913,197 4,552
ENST00000533280.6 hg38 chr11 111,908,628 111,910,796 2,169
ENST00000533879.2 hg38 chr11 111,908,625 111,913,897 5,273
ENST00000525823.1 hg19 chr11 111,779,344 111,781,617 2,274
ENST00000526180.6 hg19 chr11 111,779,347 111,783,912 4,566
ENST00000650687.2 hg19 chr11 111,779,288 111,782,494 3,207
ENST00000527950.5 hg19 chr11 111,779,347 111,794,446 15,100
ENST00000227251.7 hg19 chr11 111,779,353 111,782,734 3,382
ENST00000531198.5 hg19 chr11 111,779,370 111,783,921 4,552
ENST00000533280.6 hg19 chr11 111,779,352 111,781,520 2,169
ENST00000533475.6 hg19 chr11 111,779,349 111,784,573 5,225
ENST00000533879.2 hg19 chr11 111,779,349 111,784,621 5,273
ENST00000533971.2 hg19 chr11 111,779,382 111,783,908 4,527
ENST00000651164.1 hg19 chr11 111,779,349 111,782,707 3,359
ENST00000651650.1 hg19 chr11 111,779,349 111,781,576 2,228
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