ENST00000649435.1 MCFD2

Information
Transcript ID
ENST00000649435.1
Genome
hg19
Position
chr2:47,129,106-47,142,900
Strand
-
CDS length
330
Amino acid length
110
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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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
4 47,129,106 47,132,729
3 47,134,949 47,135,108
2 47,136,162 47,136,316
1 47,142,862 47,142,900
CDS
Exon number Type Start Stop
4 CDS 47,132,709 47,132,729
3 CDS 47,134,949 47,135,108
2 CDS 47,136,162 47,136,310
Other genome
Genome Chromosome Start End Links
hg38 chr2 46,901,967 46,915,761 Link
CDS sequence
ATGACCATGAGATCCCTGCTCAGAACCCCCTTCCTGTGTGGCCTGCTCTGGGCCTTTTGTGCCCCAGGCGCCAGGGCTGAGGAGCCTGCAGCCAGCTTCTCCCAACCCGGCAGCATGGGCCTGGATAAGAACACAGTGCACGACCAAGAGCATATCATGGAGCATCTAGAAGGTGTCATCAACAAACCAGAGGCGGAGATGTCGCCACAAGAATTGCAGCTCCATTACTTCAAAATGCATGATTATGATGGCAATAATTTGCTTGATGGCTTAGAACTCTCCACAGCCATCACTCATGTCCATAAGGAGGGAGTGAACAGGCACCACTAA
Amino sequence
MTMRSLLRTPFLCGLLWAFCAPGARAEEPAASFSQPGSMGLDKNTVHDQEHIMEHLEGVINKPEAEMSPQELQLHYFKMHDYDGNNLLDGLELSTAITHVHKEGVNRHH*