ENST00000290374.5 GJD2

Information
Transcript ID
ENST00000290374.5
Genome
hg38
Position
chr15:34,751,032-34,754,998
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

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
2 34,751,032 34,753,372
1 34,754,418 34,754,998
CDS
Exon number Type Start Stop
2 CDS 34,752,478 34,753,372
1 CDS 34,754,418 34,754,488
Other genome
Genome Chromosome Start End Links
hg19 chr15 35,043,233 35,047,199 Link
CDS sequence
ATGGGGGAATGGACCATCTTGGAGAGGCTGCTAGAAGCCGCGGTGCAGCAGCACTCCACTATGATCGGGAGGATCCTGTTGACTGTGGTGGTGATCTTCCGGATCCTCATTGTGGCCATTGTGGGGGAGACGGTGTACGATGATGAGCAGACCATGTTTGTGTGCAACACCCTGCAGCCCGGCTGTAACCAGGCCTGCTATGACCGCGCCTTCCCCATCTCCCACATACGTTACTGGGTCTTCCAGATCATAATGGTGTGTACCCCCAGTCTTTGCTTCATCACCTACTCTGTGCACCAGTCCGCCAAGCAGCGAGAACGCCGCTACTCTACAGTCTTCCTAGCCCTGGACAGAGACCCCCCTGAGTCCATAGGAGGTCCTGGAGGAACTGGGGGTGGGGGCAGTGGTGGGGGCAAACGAGAAGATAAGAAGTTGCAAAATGCTATTGTGAATGGGGTGCTGCAGAACACAGAGAACACCAGTAAGGAGACAGAGCCAGATTGTTTAGAGGTTAAGGAGCTGACTCCACACCCATCAGGTCTACGCACTGCATCAAAATCCAAGCTCAGAAGGCAGGAAGGCATCTCCCGCTTCTACATTATCCAAGTGGTGTTCCGAAATGCCCTGGAAATTGGGTTCCTGGTTGGCCAATATTTTCTCTATGGCTTTAGTGTCCCAGGGTTGTATGAGTGTAACCGCTACCCCTGCATCAAGGAGGTGGAATGTTATGTGTCCCGGCCAACTGAGAAGACTGTCTTTCTAGTGTTCATGTTTGCTGTAAGTGGCATCTGTGTTGTGCTCAACCTGGCTGAACTCAACCACCTGGGATGGCGCAAGATCAAGCTGGCTGTGCGAGGGGCTCAGGCCAAGAGAAAGTCAATCTATGAGATTCGTAACAAGGACCTGCCAAGGGTCAGTGTTCCCAATTTTGGCAGGACTCAGTCCAGTGACTCTGCCTATGTGTGA
Amino sequence
MGEWTILERLLEAAVQQHSTMIGRILLTVVVIFRILIVAIVGETVYDDEQTMFVCNTLQPGCNQACYDRAFPISHIRYWVFQIIMVCTPSLCFITYSVHQSAKQRERRYSTVFLALDRDPPESIGGPGGTGGGGSGGGKREDKKLQNAIVNGVLQNTENTSKETEPDCLEVKELTPHPSGLRTASKSKLRRQEGISRFYIIQVVFRNALEIGFLVGQYFLYGFSVPGLYECNRYPCIKEVECYVSRPTEKTVFLVFMFAVSGICVVLNLAELNHLGWRKIKLAVRGAQAKRKSIYEIRNKDLPRVSVPNFGRTQSSDSAYV*