ENST00000444761.6 MCFD2

Information
Transcript ID
ENST00000444761.6
Genome
hg19
Position
chr2:47,129,009-47,168,994
Strand
-
CDS length
384
Amino acid length
128
Gene symbol
MCFD2
Gene type
protein-coding
Gene description
multiple coagulation factor deficiency 2, ER cargo receptor complex subunit
Gene Entrez Gene ID
90411
Variants

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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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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
3 47,129,009 47,132,733
2 47,134,949 47,135,108
1 47,168,711 47,168,994
CDS
Exon number Type Start Stop
3 CDS 47,132,602 47,132,733
2 CDS 47,134,949 47,135,108
1 CDS 47,168,711 47,168,802
Other genome
Genome Chromosome Start End Links
hg38 chr2 46,901,870 46,941,855 Link
CDS sequence
ATGCTCAGCGTCTGCAGCTGCCGGACCAGCTCCGGCATGCGGTCCCAGTGGCCCTCGGCGCGGCAGCGCTCCAGCTCGCTCTCCACCTTCAGGCATATCATGGAGCATCTAGAAGGTGTCATCAACAAACCAGAGGCGGAGATGTCGCCACAAGAATTGCAGCTCCATTACTTCAAAATGCATGATTATGATGGCAATAATTTGCTTGATGGCTTAGAACTCTCCACAGCCATCACTCATGTCCATAAGGAGGAAGGGAGTGAACAGGCACCACTAATGAGTGAAGATGAACTGATTAACATAATAGATGGTGTTTTGAGAGATGATGACAAGAACAATGATGGATACATTGACTATGCTGAATTTGCAAAATCACTGCAGTAG
Amino sequence
MLSVCSCRTSSGMRSQWPSARQRSSSLSTFRHIMEHLEGVINKPEAEMSPQELQLHYFKMHDYDGNNLLDGLELSTAITHVHKEEGSEQAPLMSEDELINIIDGVLRDDDKNNDGYIDYAEFAKSLQ*