Canonical Allele Identifier: CA923726378
Gene: TGFBR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30672048_30672056del , CM000665.2:g.30672048_30672056del GRCh38
NC_000003.11:g.30713540_30713548del , CM000665.1:g.30713540_30713548del GRCh37
NC_000003.10:g.30688544_30688552del NCBI36
NG_007490.1:g.70547_70555del , LRG_779:g.70547_70555del

Transcript Alleles

HGVS Amino-acid Change
ENST00000295754.10:c.865_873del MANE Select ENSP00000295754.5:p.Thr289_Lys291del
ENST00000672866.1:n.2461_2469del
ENST00000295754.9:c.865_873del ENSP00000295754.5:p.Thr289_Lys291del
ENST00000359013.4:c.940_948del ENSP00000351905.4:p.Thr314_Lys316del
NM_001024847.2:c.940_948del , LRG_779t1:c.940_948del NP_001020018.1:p.Thr314_Lys316del
NM_003242.5:c.865_873del NP_003233.4:p.Thr289_Lys291del
XM_011534043.1:c.892_900del XP_011532345.1:p.Thr298_Lys300del
XM_011534044.1:c.817_825del XP_011532346.1:p.Thr273_Lys275del
XM_011534045.1:c.760_768del XP_011532347.1:p.Thr254_Lys256del
XM_011534043.2:c.892_900del XP_011532345.1:p.Thr298_Lys300del
XM_011534045.3:c.760_768del XP_011532347.1:p.Thr254_Lys256del
XM_017007106.1:c.760_768del XP_016862595.1:p.Thr254_Lys256del
NM_003242.6:c.865_873del MANE Select NP_003233.4:p.Thr289_Lys291del