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Overview
Mutation
Expression
Methylation
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Colon Cancer: Gene >> EGLN2
Mutation ID
1
Mutation Consequence
missense_variant
Transcription ID
ENST00000303961
Start
40801053:40801053(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
novel
CDS Mutation
c.481G>A
AA Mutation
p.Ala161Thr(p.A161T)
Mutation Classification
Missense_Mutation
Feature Type
Transcript
Mutation ID
2
Mutation Consequence
missense_variant
Transcription ID
ENST00000303961
Start
40801149:40801149(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
null
CDS Mutation
c.577G>A
AA Mutation
p.Val193Ile(p.V193I)
Mutation Classification
Missense_Mutation
Feature Type
Transcript
Mutation ID
3
Mutation Consequence
missense_variant
Transcription ID
ENST00000303961
Start
40806565:40806565(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
rs763273304
CDS Mutation
c.854C>T
AA Mutation
p.Ala285Val(p.A285V)
Mutation Classification
Missense_Mutation
Feature Type
Transcript
Mutation ID
4
Mutation Consequence
missense_variant
Transcription ID
ENST00000303961
Start
40807839:40807839(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
null
CDS Mutation
c.1199T>C
AA Mutation
p.Val400Ala(p.V400A)
Mutation Classification
Missense_Mutation
Feature Type
Transcript
Mutation ID
5
Mutation Consequence
synonymous_variant
Transcription ID
ENST00000303961
Start
40806581:40806581(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
novel
CDS Mutation
c.870C>T
Mutation Classification
Silent
Feature Type
Transcript
Mutation ID
6
Mutation Consequence
synonymous_variant
Transcription ID
ENST00000303961
Start
40801148:40801148(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
rs781201989
CDS Mutation
c.576C>T
Mutation Classification
Silent
Feature Type
Transcript
Mutation ID
7
Mutation Consequence
synonymous_variant
Transcription ID
ENST00000303961
Start
40801235:40801235(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
rs150973573
CDS Mutation
c.663C>T
Mutation Classification
Silent
Feature Type
Transcript
Mutation ID
8
Mutation Consequence
frameshift_variant
Transcription ID
ENST00000303961
Start
40800760:40800760(version: GRCh38)
Mutation Type
DEL
dbSNP_RS
novel
CDS Mutation
c.192delC
AA Mutation
p.Arg65GlufsTer86(p.R65Efs*86)
Mutation Classification
Frame_Shift_Del
Feature Type
Transcript
Rectum Cancer: Gene >> EGLN2
No Mutation Annotation!