ENST00000409223.2 KLHL30

Information
Transcript ID
ENST00000409223.2
Genome
hg19
Position
chr2:239,047,309-239,061,588
Strand
+
CDS length
1,737
Amino acid length
579
Gene symbol
KLHL30
Gene type
protein-coding
Gene description
kelch like family member 30
Gene Entrez Gene ID
377007
Variants

Display target variant


Search Word
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
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
Exon
Exon number Start Stop
1 239,047,309 239,047,399
2 239,049,326 239,050,169
3 239,051,440 239,051,572
4 239,053,543 239,053,629
5 239,054,318 239,054,473
6 239,056,475 239,056,663
7 239,057,648 239,057,793
8 239,059,455 239,061,588
CDS
Exon number Type Start Stop
2 CDS 239,049,396 239,050,169
3 CDS 239,051,440 239,051,572
4 CDS 239,053,543 239,053,629
5 CDS 239,054,318 239,054,473
6 CDS 239,056,475 239,056,663
7 CDS 239,057,648 239,057,793
8 CDS 239,059,455 239,059,706
Other genome
Genome Chromosome Start End Links
hg38 chr2 238,138,668 238,152,947 Link
CDS sequence
ATGGTGCGGAACGTGGATGACCTGGATTTCCACCTGCCCTCGCATGCCCAGGACATGCTGGATGGCCTGCAGCGCCTGCGCTCTCAGCCCAAGCTGGCCGACGTCACACTGCTGGTGGGCGGCCGGGAGCTGCCATGCCACCGCGGCCTCCTGGCGCTCAGCAGCCCCTACTTCCATGCCATGTTTGCGGGTGACTTCGCCGAGAGCTTCTCTGCGCGCGTGGAGCTGCGGGACGTGGAGCCCGCCGTGGTGGGACAACTGGTGGACTTCGTGTACACAGGCCGGCTGACCATCACGCAGGGCAACGTGGAGGCGCTGACACGCACGGCTGCGCGCCTGCACTTCCCCTCGGTGCAGAAGGTCTGCGGCCGCTACCTGCAGCAGCAACTGGATGCCGCCAACTGCCTGGGCATCTGTGAGTTCGGGGAGCAGCAAGGGCTGCTGGGCGTGGCTGCCAAGGCCTGGGCCTTCCTGCGAGAGAACTTTGAGGCTGTGGCACGTGAGGACGAGTTCCTGCAGCTTCCCCGAGAGCGGCTGGTCACTTGTCTGGCCGGCGACCTGCTGCAGGTACAGCCGGAGCAAAGCCGACTCGAGGCCCTGATGCGCTGGGTGCGCCATGACCCGCAGGCCCGGGCCGCCCACCTGCCCGAGCTGCTCAGCCTAGTGCACCTGGACGCCGTGCCCAGGCCCTGCGTGCAGCAACTGCTGGCCTCAGAGCCCCTGATCCAGGAGTCAGAGGCATGCCGGGCAGCCCTGTCCCAGGGCCATGATGGGGCACCACTCGCCCTCCAGCAGAAGCTGGAGGAGGTCCTGGTGGTGGTGGGCGGGCAGGCGCTGGAGGAGGAGGAGGCAGGTGAGGAGCCCACCCCCGGCCTTGGGAACTTTGCCTTCTACAACAGCAAGGCCAAGAGGTGGATGGCACTTCCAGACTTCCCCGACTATCACAAGTGGGGTTTCTCCCTGGCGGCCCTGAACAACAACATCTATGTCACAGGTGGCTCTCGGGGCACAAAGACAGACACCTGGTCAACCACCCAGGCCTGGTGCTTCCCCCTGAAGGAGGCCTCCTGGAAGCCCGTGGCGCCCATGCTGAAGCCCCGCACCAACCACGCCAGCGCGGCCCTCAATGGGGAGATCTACGTTATCGGCGGCACCACCCTGGACGTGGTGGAGGTGGAGAGCTATGACCCCTACACGGACAGCTGGACGCCCGTCAGCCCGGCCCTCAAATACGTCAGCAACTTCTCGGCTGCCGGCTGCCGGGGCCGGCTCTACCTGGTGGGCTCCAGCGCCTGCAAGTACAACGCCCTGGCCCTGCAGTGCTACAACCCTGTCACAGATGCGTGGAGTGTGATCGCCTCGCCCTTCCTGCCCAAGTACCTGTCCTCGCCTCGCTGTGCTGCACTGCACGGGGAGCTCTACCTCATTGGGGACAACACCAAGAAGGTCTACGTGTACGACCCCGGGGCCAACCTGTGGCAGAAGGTGCAGTCACAGCACAGCCTGCATGAGAATGGCGCGCTGGTGCCACTGGGTGATGCGCTGTACGTGACGGGCGGCCGCTGGCAGGGCATGGAAGGTGACTACCACGTGGAGATGGAGGCCTACGACACGGTTCGGGACACCTGGACCCGCCACGGCGCCCTGCCCCGGCTCTGGCTCTACCACGGGGCCTCCACCGTCTTCCTGGATGTCTCCAAGTGGACCCAGCCCTCCGGCCCCACCCAGGAGCACTAA
Amino sequence
MVRNVDDLDFHLPSHAQDMLDGLQRLRSQPKLADVTLLVGGRELPCHRGLLALSSPYFHAMFAGDFAESFSARVELRDVEPAVVGQLVDFVYTGRLTITQGNVEALTRTAARLHFPSVQKVCGRYLQQQLDAANCLGICEFGEQQGLLGVAAKAWAFLRENFEAVAREDEFLQLPRERLVTCLAGDLLQVQPEQSRLEALMRWVRHDPQARAAHLPELLSLVHLDAVPRPCVQQLLASEPLIQESEACRAALSQGHDGAPLALQQKLEEVLVVVGGQALEEEEAGEEPTPGLGNFAFYNSKAKRWMALPDFPDYHKWGFSLAALNNNIYVTGGSRGTKTDTWSTTQAWCFPLKEASWKPVAPMLKPRTNHASAALNGEIYVIGGTTLDVVEVESYDPYTDSWTPVSPALKYVSNFSAAGCRGRLYLVGSSACKYNALALQCYNPVTDAWSVIASPFLPKYLSSPRCAALHGELYLIGDNTKKVYVYDPGANLWQKVQSQHSLHENGALVPLGDALYVTGGRWQGMEGDYHVEMEAYDTVRDTWTRHGALPRLWLYHGASTVFLDVSKWTQPSGPTQEH*