Canonical Allele Identifier: CA2577536260
Gene: TGFBR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30672429del , CM000665.2:g.30672429del GRCh38
NC_000003.11:g.30713921del , CM000665.1:g.30713921del GRCh37
NC_000003.10:g.30688925del NCBI36
NG_007490.1:g.70928del , LRG_779:g.70928del

Transcript Alleles

HGVS Amino-acid Change
ENST00000295754.10:c.1246del MANE Select ENSP00000295754.5:p.Ser416ValfsTer15
ENST00000672866.1:n.2842del
ENST00000295754.9:c.1246del ENSP00000295754.5:p.Ser416ValfsTer15
ENST00000359013.4:c.1321del ENSP00000351905.4:p.Ser441ValfsTer15
NM_001024847.2:c.1321del , LRG_779t1:c.1321del NP_001020018.1:p.Ser441ValfsTer15
NM_003242.5:c.1246del NP_003233.4:p.Ser416ValfsTer15
XM_011534043.1:c.1273del XP_011532345.1:p.Ser425ValfsTer15
XM_011534044.1:c.1198del XP_011532346.1:p.Ser400ValfsTer15
XM_011534045.1:c.1141del XP_011532347.1:p.Ser381ValfsTer15
XM_011534043.2:c.1273del XP_011532345.1:p.Ser425ValfsTer15
XM_011534045.3:c.1141del XP_011532347.1:p.Ser381ValfsTer15
XM_017007106.1:c.1141del XP_016862595.1:p.Ser381ValfsTer15
NM_003242.6:c.1246del MANE Select NP_003233.4:p.Ser416ValfsTer15