Canonical Allele Identifier: CA645535106
Gene: TGFBR2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30672137del , CM000665.2:g.30672137del GRCh38
NC_000003.11:g.30713629del , CM000665.1:g.30713629del GRCh37
NC_000003.10:g.30688633del NCBI36
NG_007490.1:g.70636del , LRG_779:g.70636del

Transcript Alleles

HGVS Amino-acid Change
ENST00000295754.10:c.954del MANE Select ENSP00000295754.5:p.Lys319AsnfsTer5
ENST00000672866.1:n.2550del
ENST00000295754.9:c.954del ENSP00000295754.5:p.Lys319AsnfsTer5
ENST00000359013.4:c.1029del ENSP00000351905.4:p.Lys344AsnfsTer5
NM_001024847.2:c.1029del , LRG_779t1:c.1029del NP_001020018.1:p.Lys344AsnfsTer5
NM_003242.5:c.954del NP_003233.4:p.Lys319AsnfsTer5
XM_011534043.1:c.981del XP_011532345.1:p.Lys328AsnfsTer5
XM_011534044.1:c.906del XP_011532346.1:p.Lys303AsnfsTer5
XM_011534045.1:c.849del XP_011532347.1:p.Lys284AsnfsTer5
XM_011534043.2:c.981del XP_011532345.1:p.Lys328AsnfsTer5
XM_011534045.3:c.849del XP_011532347.1:p.Lys284AsnfsTer5
XM_017007106.1:c.849del XP_016862595.1:p.Lys284AsnfsTer5
NM_003242.6:c.954del MANE Select NP_003233.4:p.Lys319AsnfsTer5