ENST00000553030.6 BEST2

Information
Transcript ID
ENST00000553030.6
Genome
hg19
Position
chr19:12,862,605-12,869,272
Strand
+
CDS length
1,530
Amino acid length
510
Gene symbol
BEST2
Gene type
protein-coding
Gene description
bestrophin 2
Gene Entrez Gene ID
54831
Variants

Display target variant


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Target data :
MGeND data only
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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
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Target data :
MGeND data only
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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 :
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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
Exon
Exon number Start Stop
1 12,862,605 12,862,653
2 12,863,356 12,863,558
3 12,864,074 12,864,168
4 12,865,366 12,865,599
5 12,865,691 12,865,845
6 12,866,193 12,866,270
7 12,866,429 12,866,581
8 12,866,669 12,866,749
9 12,866,955 12,867,109
10 12,868,465 12,869,272
CDS
Exon number Type Start Stop
2 CDS 12,863,407 12,863,558
3 CDS 12,864,074 12,864,168
4 CDS 12,865,366 12,865,599
5 CDS 12,865,691 12,865,845
6 CDS 12,866,193 12,866,270
7 CDS 12,866,429 12,866,581
8 CDS 12,866,669 12,866,749
9 CDS 12,866,955 12,867,109
10 CDS 12,868,465 12,868,891
Other genome
Genome Chromosome Start End Links
hg38 chr19 12,751,791 12,758,458 Link
CDS sequence
ATGACCGTCACCTACACAGCCCGAGTGGCGAACGCCCGCTTCGGTGGCTTCTCCCAGCTGCTGCTACTGTGGCGTGGGAGCATCTACAAACTCCTGTGGCGAGAGCTGCTCTGCTTCCTTGGGTTCTACATGGCGCTGAGTGCTGCCTACCGCTTTGTGCTGACCGAAGGGCAGAAGCGCTACTTCGAGAAGCTTGTGATTTATTGTGACCAGTATGCCAGCCTCATCCCTGTCTCCTTCGTGCTTGGCTTTTATGTGACGCTGGTGGTGAACCGCTGGTGGAGCCAGTACCTATGCATGCCGCTGCCCGACGCGCTCATGTGCGTGGTGGCGGGCACCGTGCACGGACGCGACGACCGCGGCCGCCTCTACCGGCGCACACTCATGCGCTACGCAGGGCTCTCGGCCGTGCTCATCCTGCGCTCCGTCAGCACCGCGGTGTTCAAGCGCTTCCCCACCATAGACCACGTGGTGGAGGCTGGGTTTATGACCCGCGAGGAGCGCAAGAAGTTTGAAAACCTGAACTCATCCTACAACAAGTACTGGGTGCCCTGCGTCTGGTTCTCCAACCTGGCGGCACAGGCCCGACGCGAGGGCCGCATCCGCGACAACAGCGCCCTTAAGCTGCTGCTCGAGGAGCTGAATGTTTTTCGGGGCAAATGTGGAATGCTCTTTCACTATGACTGGATTAGCGTACCCCTCGTGTACACGCAGGTGGTGACCATCGCACTGTACAGCTACTTCCTGGCTTGCCTCATTGGTCGCCAGTTCCTGGACCCGGCTCAGGGTTACAAAGACCACGACCTAGACCTGTGTGTGCCCATCTTCACCCTCTTGCAGTTCTTCTTCTACGCCGGCTGGCTCAAGGTAGCTGAGCAGCTCATCAACCCCTTCGGAGAGGACGATGATGACTTTGAGACCAACTTTCTGATCGATAGAAACTTCCAGGTGTCCATGCTGGCAGTGGACGAGATGTATGATGACCTGGCTGTGCTGGAGAAGGACTTGTACTGGGATGCAGCCGAGGCTCGCGCCCCATACACAGCGGCTACTGTCTTCCAGCTGCGGCAGCCTTCCTTCCAGGGCTCCACCTTTGACATCACGCTGGCCAAAGAAGACATGCAGTTCCAGCGGCTGGACGGCTTGGATGGACCGATGGGAGAGGCGCCCGGCGACTTCCTGCAGCGCCTCCTGCCGGCGGGCGCGGGCATGGTCGCGGGAGGCCCGCTGGGCCGGCGCCTGTCCTTTCTACTCCGCAAGAACAGCTGCGTGTCGGAGGCGTCTACTGGGGCCAGCTGCTCATGCGCGGTTGTCCCCGAAGGCGCGGCCCCGGAGTGCAGCTGCGGGGACCCGCTGCTCGACCCCGGCCTGCCGGAGCCCGAGGCCCCGCCCCCTGCGGGTCCCGAACCGCTTACCCTCATCCCTGGGCCTGTCGAGCCCTTCAGCATCGTGACCATGCCCGGGCCCCGGGGTCCGGCGCCACCCTGGCTGCCCAGCCCTATTGGCGAGGAGGAGGAGAATCTGGCCTGA
Amino sequence
MTVTYTARVANARFGGFSQLLLLWRGSIYKLLWRELLCFLGFYMALSAAYRFVLTEGQKRYFEKLVIYCDQYASLIPVSFVLGFYVTLVVNRWWSQYLCMPLPDALMCVVAGTVHGRDDRGRLYRRTLMRYAGLSAVLILRSVSTAVFKRFPTIDHVVEAGFMTREERKKFENLNSSYNKYWVPCVWFSNLAAQARREGRIRDNSALKLLLEELNVFRGKCGMLFHYDWISVPLVYTQVVTIALYSYFLACLIGRQFLDPAQGYKDHDLDLCVPIFTLLQFFFYAGWLKVAEQLINPFGEDDDDFETNFLIDRNFQVSMLAVDEMYDDLAVLEKDLYWDAAEARAPYTAATVFQLRQPSFQGSTFDITLAKEDMQFQRLDGLDGPMGEAPGDFLQRLLPAGAGMVAGGPLGRRLSFLLRKNSCVSEASTGASCSCAVVPEGAAPECSCGDPLLDPGLPEPEAPPPAGPEPLTLIPGPVEPFSIVTMPGPRGPAPPWLPSPIGEEEENLA*