Canonical Allele Identifier: CA913188066
Gene: TGFBR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 919028
ClinVar RCV Id: RCV001176952
dbSNP Id: rs1699394596

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30674251_30674257del , CM000665.2:g.30674251_30674257del GRCh38
NC_000003.11:g.30715743_30715749del , CM000665.1:g.30715743_30715749del GRCh37
NC_000003.10:g.30690747_30690753del NCBI36
NG_007490.1:g.72750_72756del , LRG_779:g.72750_72756del

Transcript Alleles

HGVS Amino-acid Change
ENST00000295754.10:c.1396+5_1396+11del MANE Select ENSP00000295754.5:n.1396+5_1396+11del
ENST00000672866.1:n.2992+5_2992+11del
ENST00000673203.1:n.274+5_274+11del
ENST00000295754.9:c.1396+5_1396+11del ENSP00000295754.5:n.1396+5_1396+11del
ENST00000359013.4:c.1471+5_1471+11del ENSP00000351905.4:n.1471+5_1471+11del
NM_001024847.2:c.1471+5_1471+11del , LRG_779t1:c.1471+5_1471+11del NP_001020018.1:n.1471+5_1471+11del
NM_003242.5:c.1396+5_1396+11del NP_003233.4:n.1396+5_1396+11del
XM_011534043.1:c.1423+5_1423+11del XP_011532345.1:n.1423+5_1423+11del
XM_011534044.1:c.1348+5_1348+11del XP_011532346.1:n.1348+5_1348+11del
XM_011534045.1:c.1291+5_1291+11del XP_011532347.1:n.1291+5_1291+11del
XM_011534043.2:c.1423+5_1423+11del XP_011532345.1:n.1423+5_1423+11del
XM_011534045.3:c.1291+5_1291+11del XP_011532347.1:n.1291+5_1291+11del
XM_017007106.1:c.1291+5_1291+11del XP_016862595.1:n.1291+5_1291+11del
NM_003242.6:c.1396+5_1396+11del MANE Select NP_003233.4:n.1396+5_1396+11del