ENST00000543555.6 MSH2

Information
Transcript ID
ENST00000543555.6
Genome
hg19
Position
chr2:47,630,206-47,710,360
Strand
+
CDS length
2,607
Amino acid length
869
Gene symbol
MSH2
Gene type
protein-coding
Gene description
mutS homolog 2
Gene Entrez Gene ID
4436
Variants

Display target variant


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
Exon
Exon number Start Stop
1 47,630,206 47,630,314
2 47,630,499 47,630,541
3 47,635,540 47,635,694
4 47,637,233 47,637,511
5 47,639,553 47,639,699
6 47,641,408 47,641,557
7 47,643,435 47,643,568
8 47,656,881 47,657,080
9 47,672,687 47,672,796
10 47,690,170 47,690,293
11 47,693,797 47,693,947
12 47,698,104 47,698,201
13 47,702,164 47,702,409
14 47,703,506 47,703,710
15 47,705,411 47,705,658
16 47,707,835 47,708,010
17 47,709,918 47,710,360
CDS
Exon number Type Start Stop
2 CDS 47,630,529 47,630,541
3 CDS 47,635,540 47,635,694
4 CDS 47,637,233 47,637,511
5 CDS 47,639,553 47,639,699
6 CDS 47,641,408 47,641,557
7 CDS 47,643,435 47,643,568
8 CDS 47,656,881 47,657,080
9 CDS 47,672,687 47,672,796
10 CDS 47,690,170 47,690,293
11 CDS 47,693,797 47,693,947
12 CDS 47,698,104 47,698,201
13 CDS 47,702,164 47,702,409
14 CDS 47,703,506 47,703,710
15 CDS 47,705,411 47,705,658
16 CDS 47,707,835 47,708,010
17 CDS 47,709,918 47,710,088
Other genome
Genome Chromosome Start End Links
hg38 chr2 47,403,067 47,483,221 Link
CDS sequence
ATGGGGCCGGCAGGAGCAAAGAATCTGCAGAGTGTTGTGCTTAGTAAAATGAATTTTGAATCTTTTGTAAAAGATCTTCTTCTGGTTCGTCAGTATAGAGTTGAAGTTTATAAGAATAGAGCTGGAAATAAGGCATCCAAGGAGAATGATTGGTATTTGGCATATAAGGCTTCTCCTGGCAATCTCTCTCAGTTTGAAGACATTCTCTTTGGTAACAATGATATGTCAGCTTCCATTGGTGTTGTGGGTGTTAAAATGTCCGCAGTTGATGGCCAGAGACAGGTTGGAGTTGGGTATGTGGATTCCATACAGAGGAAACTAGGACTGTGTGAATTCCCTGATAATGATCAGTTCTCCAATCTTGAGGCTCTCCTCATCCAGATTGGACCAAAGGAATGTGTTTTACCCGGAGGAGAGACTGCTGGAGACATGGGGAAACTGAGACAGATAATTCAAAGAGGAGGAATTCTGATCACAGAAAGAAAAAAAGCTGACTTTTCCACAAAAGACATTTATCAGGACCTCAACCGGTTGTTGAAAGGCAAAAAGGGAGAGCAGATGAATAGTGCTGTATTGCCAGAAATGGAGAATCAGGTTGCAGTTTCATCACTGTCTGCGGTAATCAAGTTTTTAGAACTCTTATCAGATGATTCCAACTTTGGACAGTTTGAACTGACTACTTTTGACTTCAGCCAGTATATGAAATTGGATATTGCAGCAGTCAGAGCCCTTAACCTTTTTCAGGGTTCTGTTGAAGATACCACTGGCTCTCAGTCTCTGGCTGCCTTGCTGAATAAGTGTAAAACCCCTCAAGGACAAAGACTTGTTAACCAGTGGATTAAGCAGCCTCTCATGGATAAGAACAGAATAGAGGAGAGATTGAATTTAGTGGAAGCTTTTGTAGAAGATGCAGAATTGAGGCAGACTTTACAAGAAGATTTACTTCGTCGATTCCCAGATCTTAACCGACTTGCCAAGAAGTTTCAAAGACAAGCAGCAAACTTACAAGATTGTTACCGACTCTATCAGGGTATAAATCAACTACCTAATGTTATACAGGCTCTGGAAAAACATGAAGGAAAACACCAGAAATTATTGTTGGCAGTTTTTGTGACTCCTCTTACTGATCTTCGTTCTGACTTCTCCAAGTTTCAGGAAATGATAGAAACAACTTTAGATATGGATCAGGTGGAAAACCATGAATTCCTTGTAAAACCTTCATTTGATCCTAATCTCAGTGAATTAAGAGAAATAATGAATGACTTGGAAAAGAAGATGCAGTCAACATTAATAAGTGCAGCCAGAGATCTTGGCTTGGACCCTGGCAAACAGATTAAACTGGATTCCAGTGCACAGTTTGGATATTACTTTCGTGTAACCTGTAAGGAAGAAAAAGTCCTTCGTAACAATAAAAACTTTAGTACTGTAGATATCCAGAAGAATGGTGTTAAATTTACCAACAGCAAATTGACTTCTTTAAATGAAGAGTATACCAAAAATAAAACAGAATATGAAGAAGCCCAGGATGCCATTGTTAAAGAAATTGTCAATATTTCTTCAGGCTATGTAGAACCAATGCAGACACTCAATGATGTGTTAGCTCAGCTAGATGCTGTTGTCAGCTTTGCTCACGTGTCAAATGGAGCACCTGTTCCATATGTACGACCAGCCATTTTGGAGAAAGGACAAGGAAGAATTATATTAAAAGCATCCAGGCATGCTTGTGTTGAAGTTCAAGATGAAATTGCATTTATTCCTAATGACGTATACTTTGAAAAAGATAAACAGATGTTCCACATCATTACTGGCCCCAATATGGGAGGTAAATCAACATATATTCGACAAACTGGGGTGATAGTACTCATGGCCCAAATTGGGTGTTTTGTGCCATGTGAGTCAGCAGAAGTGTCCATTGTGGACTGCATCTTAGCCCGAGTAGGGGCTGGTGACAGTCAATTGAAAGGAGTCTCCACGTTCATGGCTGAAATGTTGGAAACTGCTTCTATCCTCAGGTCTGCAACCAAAGATTCATTAATAATCATAGATGAATTGGGAAGAGGAACTTCTACCTACGATGGATTTGGGTTAGCATGGGCTATATCAGAATACATTGCAACAAAGATTGGTGCTTTTTGCATGTTTGCAACCCATTTTCATGAACTTACTGCCTTGGCCAATCAGATACCAACTGTTAATAATCTACATGTCACAGCACTCACCACTGAAGAGACCTTAACTATGCTTTATCAGGTGAAGAAAGGTGTCTGTGATCAAAGTTTTGGGATTCATGTTGCAGAGCTTGCTAATTTCCCTAAGCATGTAATAGAGTGTGCTAAACAGAAAGCCCTGGAACTTGAGGAGTTTCAGTATATTGGAGAATCGCAAGGATATGATATCATGGAACCAGCAGCAAAGAAGTGCTATCTGGAAAGAGAGCAAGGTGAAAAAATTATTCAGGAGTTCCTGTCCAAGGTGAAACAAATGCCCTTTACTGAAATGTCAGAAGAAAACATCACAATAAAGTTAAAACAGCTAAAAGCTGAAGTAATAGCAAAGAATAATAGCTTTGTAAATGAAATCATTTCACGAATAAAAGTTACTACGTGA
Amino sequence
MGPAGAKNLQSVVLSKMNFESFVKDLLLVRQYRVEVYKNRAGNKASKENDWYLAYKASPGNLSQFEDILFGNNDMSASIGVVGVKMSAVDGQRQVGVGYVDSIQRKLGLCEFPDNDQFSNLEALLIQIGPKECVLPGGETAGDMGKLRQIIQRGGILITERKKADFSTKDIYQDLNRLLKGKKGEQMNSAVLPEMENQVAVSSLSAVIKFLELLSDDSNFGQFELTTFDFSQYMKLDIAAVRALNLFQGSVEDTTGSQSLAALLNKCKTPQGQRLVNQWIKQPLMDKNRIEERLNLVEAFVEDAELRQTLQEDLLRRFPDLNRLAKKFQRQAANLQDCYRLYQGINQLPNVIQALEKHEGKHQKLLLAVFVTPLTDLRSDFSKFQEMIETTLDMDQVENHEFLVKPSFDPNLSELREIMNDLEKKMQSTLISAARDLGLDPGKQIKLDSSAQFGYYFRVTCKEEKVLRNNKNFSTVDIQKNGVKFTNSKLTSLNEEYTKNKTEYEEAQDAIVKEIVNISSGYVEPMQTLNDVLAQLDAVVSFAHVSNGAPVPYVRPAILEKGQGRIILKASRHACVEVQDEIAFIPNDVYFEKDKQMFHIITGPNMGGKSTYIRQTGVIVLMAQIGCFVPCESAEVSIVDCILARVGAGDSQLKGVSTFMAEMLETASILRSATKDSLIIIDELGRGTSTYDGFGLAWAISEYIATKIGAFCMFATHFHELTALANQIPTVNNLHVTALTTEETLTMLYQVKKGVCDQSFGIHVAELANFPKHVIECAKQKALELEEFQYIGESQGYDIMEPAAKKCYLEREQGEKIIQEFLSKVKQMPFTEMSEENITIKLKQLKAEVIAKNNSFVNEIISRIKVTT*