Primary Site >> Esophagus Cancer

Gene >> TGFBR2

ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000295754
Start 30672361:30672361(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1178G>T
AA Mutation p.Cys393Phe(p.C393F)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000295754
Start 30674186:30674186(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1336G>A
AA Mutation p.Asp446Asn(p.D446N)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000295754
Start 30650292:30650292(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.286A>G
AA Mutation p.Thr96Ala(p.T96A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000295754
Start 30691484:30691484(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1589C>T
AA Mutation p.Thr530Ile(p.T530I)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000295754
Start 30672393:30672393(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1210C>G
AA Mutation p.Leu404Val(p.L404V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000295754
Start 30674126:30674126(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1276G>A
AA Mutation p.Ala426Thr(p.A426T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000295754
Start 30674123:30674123(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs104893817
CDS Mutation c.1273A>G
AA Mutation p.Met425Val(p.M425V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 8
Mutation Consequence synonymous_variant
Transcription ID ENST00000295754
Start 30671807:30671807(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.624G>A
Mutation Classification Silent
Feature Type Transcript
ID 9
Mutation Consequence frameshift_variant
Transcription ID ENST00000295754
Start 30650380:30650380(version: GRCh38)
Mutation Type DEL
dbSNP_RS rs752580104
CDS Mutation c.383delA
AA Mutation p.Lys128SerfsTer35(p.K128Sfs*35)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 10
Mutation Consequence stop_gained
Transcription ID ENST00000295754
Start 30650455:30650455(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.449C>G
AA Mutation p.Ser150Ter(p.S150*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript