Primary Site >> Esophagus Cancer

Gene >> NOTCH2

ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000256646
Start 119941539:119941539(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2968G>A
AA Mutation p.Glu990Lys(p.E990K)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000256646
Start 119922297:119922297(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5152C>T
AA Mutation p.Arg1718Cys(p.R1718C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000256646
Start 119969681:119969681(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.938G>A
AA Mutation p.Gly313Asp(p.G313D)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000256646
Start 119940679:119940679(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3059C>T
AA Mutation p.Ser1020Phe(p.S1020F)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 5
Mutation Consequence splice_acceptor_variant
Transcription ID ENST00000256646
Start 119969746:119969746(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.875-2A>T
Mutation Classification Splice_Site
Feature Type Transcript