Canonical Allele Identifier: CA1354848167
Gene: TGFBR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30617043_30617051delinsAGGAGATGT , CM000665.2:g.30617043_30617051delinsAGGAGATGT GRCh38
NC_000003.11:g.30658535_30658543delinsAGGAGATGT , CM000665.1:g.30658535_30658543delinsAGGAGATGT GRCh37
NC_000003.10:g.30633539_30633547delinsAGGAGATGT NCBI36
NG_007490.1:g.15542_15550delinsAGGAGATGT , LRG_779:g.15542_15550delinsAGGAGATGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000295754.10:c.94+10066_94+10074delinsAGGAGATGT MANE Select ENSP00000295754.5:n.94+10066_94+10074delinsAGGAGATGT
ENST00000673250.1:n.143+2337_143+2345delinsAGGAGATGT
ENST00000295754.9:c.94+10066_94+10074delinsAGGAGATGT ENSP00000295754.5:n.94+10066_94+10074delinsAGGAGATGT
ENST00000359013.4:c.95-6156_95-6148delinsAGGAGATGT ENSP00000351905.4:n.95-6156_95-6148delinsAGGAGATGT
NM_001024847.2:c.95-6156_95-6148delinsAGGAGATGT , LRG_779t1:c.95-6156_95-6148delinsAGGAGATGT NP_001020018.1:n.95-6156_95-6148delinsAGGAGATGT
NM_003242.5:c.94+10066_94+10074delinsAGGAGATGT NP_003233.4:n.94+10066_94+10074delinsAGGAGATGT
XM_011534043.1:c.46+2337_46+2345delinsAGGAGATGT XP_011532345.1:n.46+2337_46+2345delinsAGGAGATGT
XM_011534044.1:c.46+2337_46+2345delinsAGGAGATGT XP_011532346.1:n.46+2337_46+2345delinsAGGAGATGT
XM_011534045.1:c.-12+10450_-12+10458delinsAGGAGATGT XP_011532347.1:n.-12+10450_-12+10458delinsAGGAGATGT
XM_011534043.2:c.46+2337_46+2345delinsAGGAGATGT XP_011532345.1:n.46+2337_46+2345delinsAGGAGATGT
XM_011534045.3:c.-12+10450_-12+10458delinsAGGAGATGT XP_011532347.1:n.-12+10450_-12+10458delinsAGGAGATGT
NM_003242.6:c.94+10066_94+10074delinsAGGAGATGT MANE Select NP_003233.4:n.94+10066_94+10074delinsAGGAGATGT