Primary Site >> Esophagus Cancer

Gene >> COL1A2

ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000297268
Start 94420252:94420252(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2099G>C
AA Mutation p.Gly700Ala(p.G700A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000297268
Start 94423057:94423057(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2504G>A
AA Mutation p.Gly835Asp(p.G835D)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000297268
Start 94423050:94423050(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2497G>A
AA Mutation p.Glu833Lys(p.E833K)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 4
Mutation Consequence synonymous_variant
Transcription ID ENST00000297268
Start 94409767:94409767(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs141762645
CDS Mutation c.981C>T
Mutation Classification Silent
Feature Type Transcript