Canonical Allele Identifier: CA2755703547
Gene: TGFBR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30606722_30606723del , CM000665.2:g.30606722_30606723del GRCh38
NC_000003.11:g.30648214_30648215del , CM000665.1:g.30648214_30648215del GRCh37
NC_000003.10:g.30623218_30623219del NCBI36
NG_007490.1:g.5221_5222del , LRG_779:g.5221_5222del

Transcript Alleles

HGVS Amino-acid Change
ENST00000295754.10:c.-162_-161del MANE Select ENSP00000295754.5:n.-162_-161del
ENST00000295754.9:c.-162_-161del ENSP00000295754.5:n.-162_-161del
ENST00000359013.4:c.-162_-161del ENSP00000351905.4:n.-162_-161del
NM_001024847.2:c.-162_-161del , LRG_779t1:c.-162_-161del NP_001020018.1:n.-162_-161del
NM_003242.5:c.-162_-161del NP_003233.4:n.-162_-161del
XM_011534045.1:c.-12+129_-12+130del XP_011532347.1:n.-12+129_-12+130del
XM_011534045.3:c.-12+129_-12+130del XP_011532347.1:n.-12+129_-12+130del
NM_003242.6:c.-162_-161del MANE Select NP_003233.4:n.-162_-161del