ENST00000674548.1 MFN2

Information
Transcript ID
ENST00000674548.1
Genome
hg19
Position
chr1:12,040,273-12,073,557
Strand
+
CDS length
2,274
Amino acid length
758
Gene symbol
MFN2
Gene type
protein-coding
Gene description
mitofusin 2
Gene Entrez Gene ID
9927
Variants

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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
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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 12,040,273 12,040,541
2 12,048,484 12,048,573
3 12,049,222 12,049,400
4 12,052,612 12,052,747
5 12,056,213 12,056,375
6 12,057,354 12,057,478
7 12,058,827 12,058,935
8 12,059,045 12,059,152
9 12,061,458 12,061,611
10 12,061,826 12,061,893
11 12,062,039 12,062,160
12 12,064,049 12,064,175
13 12,064,566 12,064,670
14 12,064,882 12,064,984
15 12,065,768 12,065,988
16 12,066,595 12,066,750
17 12,067,110 12,067,306
18 12,069,649 12,069,783
19 12,071,553 12,073,557
CDS
Exon number Type Start Stop
3 CDS 12,049,226 12,049,400
4 CDS 12,052,612 12,052,747
5 CDS 12,056,213 12,056,375
6 CDS 12,057,354 12,057,478
7 CDS 12,058,827 12,058,935
8 CDS 12,059,045 12,059,152
9 CDS 12,061,458 12,061,611
10 CDS 12,061,826 12,061,893
11 CDS 12,062,039 12,062,160
12 CDS 12,064,049 12,064,175
13 CDS 12,064,566 12,064,670
14 CDS 12,064,882 12,064,984
15 CDS 12,065,768 12,065,988
16 CDS 12,066,595 12,066,750
17 CDS 12,067,110 12,067,306
18 CDS 12,069,649 12,069,783
19 CDS 12,071,553 12,071,622
Other genome
Genome Chromosome Start End Links
hg38 chr1 11,980,216 12,013,500 Link
CDS sequence
ATGTCCCTGCTCTTCTCTCGATGCAACTCTATCGTCACAGTCAAGAAAAATAAGAGACACATGGCTGAGGTGAATGCATCCCCACTTAAGCACTTTGTCACTGCCAAGAAGAAGATCAATGGCATTTTTGAGCAGCTGGGGGCCTACATCCAGGAGAGCGCCACCTTCCTTGAAGACACGTACAGGAATGCAGAACTGGACCCCGTTACCACAGAAGAACAGGTTCTGGACGTCAAAGGTTACCTATCCAAAGTGAGAGGCATCAGTGAGGTGCTGGCTCGGAGGCACATGAAAGTGGCTTTTTTTGGCCGGACGAGCAATGGGAAGAGCACCGTGATCAATGCCATGCTCTGGGACAAAGTTCTGCCCTCTGGGATTGGCCACACCACCAATTGCTTCCTGCGGGTAGAGGGCACAGATGGCCATGAGGCCTTTCTCCTTACCGAGGGCTCAGAGGAAAAGAGGAGTGCCAAGACTGTGAACCAGCTGGCCCATGCCCTCCACCAGGACAAGCAGCTCCATGCCGGCAGCCTAGTGAGTGTGATGTGGCCCAACTCTAAGTGCCCACTTCTGAAGGATGACCTCGTTTTGATGGACAGCCCTGGTATTGATGTCACCACAGAGCTGGACAGCTGGATTGACAAGTTTTGTCTGGATGCTGATGTGTTTGTGCTGGTGGCCAACTCAGAGTCCACCCTGATGCAGACGGAAAAGCACTTCTTCCACAAGGTGAGTGAGCGTCTCTCCCGGCCAAACATCTTCATCCTGAACAACCGCTGGGATGCATCTGCCTCAGAGCCCGAGTACATGGAGGAGGTGCGGCGGCAGCACATGGAGCGTTGTACCAGCTTCCTGGTGGATGAGCTGGGCGTGGTGGATCGATCCCAGGCCGGGGACCGCATCTTCTTTGTGTCTGCTAAGGAGGTGCTCAACGCCAGGATTCAGAAAGCCCAGGGCATGCCTGAAGGAGGGGGCGCTCTCGCAGAAGGCTTTCAAGTGAGGATGTTTGAGTTTCAGAATTTTGAGAGGAGATTTGAGGAGTGCATCTCCCAGTCTGCAGTGAAGACCAAGTTTGAGCAGCACACGGTCCGGGCCAAGCAGATTGCAGAGGCGGTTCGACTCATCATGGACTCCCTGCACATGGCGGCTCGGGAGCAGCAGGTTTACTGCGAGGAAATGCGTGAAGAGCGGCAAGACCGACTGAAATTTATTGACAAACAGCTGGAGCTCTTGGCTCAAGACTATAAGCTGCGAATTAAGCAGATTACGGAGGAAGTGGAGAGGCAGGTGTCGACTGCAATGGCCGAGGAGATCAGGCGCCTCTCTGTACTGGTGGACGATTACCAGATGGACTTCCACCCTTCTCCAGTAGTCCTCAAGGTTTATAAGAATGAGCTGCACCGCCACATAGAGGAAGGACTGGGTCGAAACATGTCTGACCGCTGCTCCACGGCCATCACCAACTCCCTGCAGACCATGCAGCAGGACATGATAGATGGCTTGAAACCCCTCCTTCCTGTGTCTGTGCGGAGTCAGATAGACATGCTGGTCCCACGCCAGTGCTTCTCCCTCAACTATGACCTAAACTGTGACAAGCTGTGTGCTGACTTCCAGGAAGACATTGAGTTCCATTTCTCTCTCGGATGGACCATGCTGGTGAATAGGTTCCTGGGCCCCAAGAACAGCCGTCGGGCCTTGATGGGCTACAATGACCAGGTCCAGCGTCCCATCCCTCTGACGCCAGCCAACCCCAGCATGCCCCCACTGCCACAGGGCTCGCTCACCCAGGAGGAGTTCATGGTTTCCATGGTTACCGGCCTGGCCTCCTTGACATCCAGGACCTCCATGGGCATTCTTGTTGTTGGAGGAGTGGTGTGGAAGGCAGTGGGCTGGCGGCTCATTGCCCTCTCCTTTGGGCTCTATGGCCTCCTCTACGTCTATGAGCGTCTGACCTGGACCACCAAGGCCAAGGAGAGGGCCTTCAAGCGCCAGTTTGTGGAGCATGCCAGCGAGAAGCTGCAGCTTGTCATCAGCTACACTGGCTCCAACTGCAGCCACCAAGTCCAGCAGGAACTGTCTGGGACCTTTGCTCATCTGTGTCAGCAAGTTGACGTCACCCGGGAGAACCTGGAGCAGGAAATTGCCGCCATGAACAAGAAAATTGAGGTTCTTGACTCACTTCAGAGCAAAGCAAAGCTGCTCAGGAATAAAGCCGGTTGGTTGGACAGTGAGCTCAACATGTTCACACACCAGTACCTGCAGCCCAGCAGATAG
Amino sequence
MSLLFSRCNSIVTVKKNKRHMAEVNASPLKHFVTAKKKINGIFEQLGAYIQESATFLEDTYRNAELDPVTTEEQVLDVKGYLSKVRGISEVLARRHMKVAFFGRTSNGKSTVINAMLWDKVLPSGIGHTTNCFLRVEGTDGHEAFLLTEGSEEKRSAKTVNQLAHALHQDKQLHAGSLVSVMWPNSKCPLLKDDLVLMDSPGIDVTTELDSWIDKFCLDADVFVLVANSESTLMQTEKHFFHKVSERLSRPNIFILNNRWDASASEPEYMEEVRRQHMERCTSFLVDELGVVDRSQAGDRIFFVSAKEVLNARIQKAQGMPEGGGALAEGFQVRMFEFQNFERRFEECISQSAVKTKFEQHTVRAKQIAEAVRLIMDSLHMAAREQQVYCEEMREERQDRLKFIDKQLELLAQDYKLRIKQITEEVERQVSTAMAEEIRRLSVLVDDYQMDFHPSPVVLKVYKNELHRHIEEGLGRNMSDRCSTAITNSLQTMQQDMIDGLKPLLPVSVRSQIDMLVPRQCFSLNYDLNCDKLCADFQEDIEFHFSLGWTMLVNRFLGPKNSRRALMGYNDQVQRPIPLTPANPSMPPLPQGSLTQEEFMVSMVTGLASLTSRTSMGILVVGGVVWKAVGWRLIALSFGLYGLLYVYERLTWTTKAKERAFKRQFVEHASEKLQLVISYTGSNCSHQVQQELSGTFAHLCQQVDVTRENLEQEIAAMNKKIEVLDSLQSKAKLLRNKAGWLDSELNMFTHQYLQPSR*