Primary Site >> Esophagus Cancer

Gene >> ACAP2

ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000326793
Start 195292348:195292348(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1870G>A
AA Mutation p.Glu624Lys(p.E624K)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000326793
Start 195306582:195306582(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1045C>T
AA Mutation p.Arg349Cys(p.R349C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000326793
Start 195285852:195285852(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2180G>A
AA Mutation p.Arg727His(p.R727H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 4
Mutation Consequence frameshift_variant
Transcription ID ENST00000326793
Start 195342611:195342611(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.388delG
AA Mutation p.Val130SerfsTer9(p.V130Sfs*9)
Mutation Classification Frame_Shift_Del
Feature Type Transcript