Canonical Allele Identifier: CA1354874052
Gene: TGFBR2 HGNC NCBI

Linked Data

dbSNP Id: rs1699395015

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30674266_30674268del , CM000665.2:g.30674266_30674268del GRCh38
NC_000003.11:g.30715758_30715760del , CM000665.1:g.30715758_30715760del GRCh37
NC_000003.10:g.30690762_30690764del NCBI36
NG_007490.1:g.72765_72767del , LRG_779:g.72765_72767del

Transcript Alleles

HGVS Amino-acid Change
ENST00000295754.10:c.1396+20_1396+22del MANE Select ENSP00000295754.5:n.1396+20_1396+22del
ENST00000672866.1:n.2992+20_2992+22del
ENST00000673203.1:n.274+20_274+22del
ENST00000295754.9:c.1396+20_1396+22del ENSP00000295754.5:n.1396+20_1396+22del
ENST00000359013.4:c.1471+20_1471+22del ENSP00000351905.4:n.1471+20_1471+22del
NM_001024847.2:c.1471+20_1471+22del , LRG_779t1:c.1471+20_1471+22del NP_001020018.1:n.1471+20_1471+22del
NM_003242.5:c.1396+20_1396+22del NP_003233.4:n.1396+20_1396+22del
XM_011534043.1:c.1423+20_1423+22del XP_011532345.1:n.1423+20_1423+22del
XM_011534044.1:c.1348+20_1348+22del XP_011532346.1:n.1348+20_1348+22del
XM_011534045.1:c.1291+20_1291+22del XP_011532347.1:n.1291+20_1291+22del
XM_011534043.2:c.1423+20_1423+22del XP_011532345.1:n.1423+20_1423+22del
XM_011534045.3:c.1291+20_1291+22del XP_011532347.1:n.1291+20_1291+22del
XM_017007106.1:c.1291+20_1291+22del XP_016862595.1:n.1291+20_1291+22del
NM_003242.6:c.1396+20_1396+22del MANE Select NP_003233.4:n.1396+20_1396+22del