Primary Site >> Esophagus Cancer

Gene >> EPHA2

ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000358432
Start 16135066:16135066(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs767658655
CDS Mutation c.1552G>A
AA Mutation p.Gly518Ser(p.G518S)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000358432
Start 16130303:16130303(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2592C>A
AA Mutation p.Phe864Leu(p.F864L)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 3
Mutation Consequence synonymous_variant
Transcription ID ENST00000358432
Start 16133581:16133581(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs148209354
CDS Mutation c.1764C>T
Mutation Classification Silent
Feature Type Transcript
ID 4
Mutation Consequence frameshift_variant
Transcription ID ENST00000358432
Start 16135763:16135763(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.1320delC
AA Mutation p.Lys441ArgfsTer2(p.K441Rfs*2)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 5
Mutation Consequence stop_gained
Transcription ID ENST00000358432
Start 16133357:16133357(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1876G>T
AA Mutation p.Glu626Ter(p.E626*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript