Canonical Allele Identifier: CA020683
Gene: TGFBR2 HGNC NCBI

Linked Data

dbSNP Id: rs397516493

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30688458_30688469del , CM000665.2:g.30688458_30688469del GRCh38
NC_000003.11:g.30729950_30729961del , CM000665.1:g.30729950_30729961del GRCh37
NC_000003.10:g.30704954_30704965del NCBI36
NG_007490.1:g.86957_86968del , LRG_779:g.86957_86968del

Transcript Alleles

HGVS Amino-acid change
ENST00000295754.10:c.1471_1482del MANE Select ENSP00000295754.5:p.Val491_Asp494del
ENST00000672050.1:n.355_366del
ENST00000672866.1:n.3067_3078del
ENST00000673203.1:n.349_360del
ENST00000295754.9:c.1471_1482del ENSP00000295754.5:p.Val491_Asp494del
ENST00000359013.4:c.1546_1557del ENSP00000351905.4:p.Val516_Asp519del
NM_001024847.2:c.1546_1557del , LRG_779t1:c.1546_1557del NP_001020018.1:p.Val516_Asp519del
NM_003242.5:c.1471_1482del NP_003233.4:p.Val491_Asp494del
XM_011534043.1:c.1498_1509del XP_011532345.1:p.Val500_Asp503del
XM_011534044.1:c.1423_1434del XP_011532346.1:p.Val475_Asp478del
XM_011534045.1:c.1366_1377del XP_011532347.1:p.Val456_Asp459del
XM_011534043.2:c.1498_1509del XP_011532345.1:p.Val500_Asp503del
XM_011534045.3:c.1366_1377del XP_011532347.1:p.Val456_Asp459del
XM_017007106.1:c.1366_1377del XP_016862595.1:p.Val456_Asp459del
NM_003242.6:c.1471_1482del MANE Select NP_003233.4:p.Val491_Asp494del