ENST00000290374.5 GJD2

Information
Transcript ID
ENST00000290374.5
Genome
hg19
Position
chr15:35,043,233-35,047,199
Strand
-
CDS length
966
Amino acid length
322
Gene symbol
GJD2
Gene type
protein-coding
Gene description
gap junction protein delta 2
Gene Entrez Gene ID
57369
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
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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
2 35,043,233 35,045,573
1 35,046,619 35,047,199
CDS
Exon number Type Start Stop
2 CDS 35,044,679 35,045,573
1 CDS 35,046,619 35,046,689
Other genome
Genome Chromosome Start End Links
hg38 chr15 34,751,032 34,754,998 Link
CDS sequence
ATGGGGGAATGGACCATCTTGGAGAGGCTGCTAGAAGCCGCGGTGCAGCAGCACTCCACTATGATCGGGAGGATCCTGTTGACTGTGGTGGTGATCTTCCGGATCCTCATTGTGGCCATTGTGGGGGAGACGGTGTACGATGATGAGCAGACCATGTTTGTGTGCAACACCCTGCAGCCCGGCTGTAACCAGGCCTGCTATGACCGCGCCTTCCCCATCTCCCACATACGTTACTGGGTCTTCCAGATCATAATGGTGTGTACCCCCAGTCTTTGCTTCATCACCTACTCTGTGCACCAGTCCGCCAAGCAGCGAGAACGCCGCTACTCTACAGTCTTCCTAGCCCTGGACAGAGACCCCCCTGAGTCCATAGGAGGTCCTGGAGGAACTGGGGGTGGGGGCAGTGGTGGGGGCAAACGAGAAGATAAGAAGTTGCAAAATGCTATTGTGAATGGGGTGCTGCAGAACACAGAGAACACCAGTAAGGAGACAGAGCCAGATTGTTTAGAGGTTAAGGAGCTGACTCCACACCCATCAGGTCTACGCACTGCATCAAAATCCAAGCTCAGAAGGCAGGAAGGCATCTCCCGCTTCTACATTATCCAAGTGGTGTTCCGAAATGCCCTGGAAATTGGGTTCCTGGTTGGCCAATATTTTCTCTATGGCTTTAGTGTCCCAGGGTTGTATGAGTGTAACCGCTACCCCTGCATCAAGGAGGTGGAATGTTATGTGTCCCGGCCAACTGAGAAGACTGTCTTTCTAGTGTTCATGTTTGCTGTAAGTGGCATCTGTGTTGTGCTCAACCTGGCTGAACTCAACCACCTGGGATGGCGCAAGATCAAGCTGGCTGTGCGAGGGGCTCAGGCCAAGAGAAAGTCAATCTATGAGATTCGTAACAAGGACCTGCCAAGGGTCAGTGTTCCCAATTTTGGCAGGACTCAGTCCAGTGACTCTGCCTATGTGTGA
Amino sequence
MGEWTILERLLEAAVQQHSTMIGRILLTVVVIFRILIVAIVGETVYDDEQTMFVCNTLQPGCNQACYDRAFPISHIRYWVFQIIMVCTPSLCFITYSVHQSAKQRERRYSTVFLALDRDPPESIGGPGGTGGGGSGGGKREDKKLQNAIVNGVLQNTENTSKETEPDCLEVKELTPHPSGLRTASKSKLRRQEGISRFYIIQVVFRNALEIGFLVGQYFLYGFSVPGLYECNRYPCIKEVECYVSRPTEKTVFLVFMFAVSGICVVLNLAELNHLGWRKIKLAVRGAQAKRKSIYEIRNKDLPRVSVPNFGRTQSSDSAYV*