Canonical Allele Identifier: CA2551938328
Gene: TGFBR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30656309_30656319del , CM000665.2:g.30656309_30656319del GRCh38
NC_000003.11:g.30697801_30697811del , CM000665.1:g.30697801_30697811del GRCh37
NC_000003.10:g.30672805_30672815del NCBI36
NG_007490.1:g.54808_54818del , LRG_779:g.54808_54818del

Transcript Alleles

HGVS Amino-acid Change
ENST00000295754.10:c.454+5849_454+5859del MANE Select ENSP00000295754.5:n.454+5849_454+5859del
ENST00000672866.1:n.2050+5849_2050+5859del
ENST00000295754.9:c.454+5849_454+5859del ENSP00000295754.5:n.454+5849_454+5859del
ENST00000359013.4:c.529+5849_529+5859del ENSP00000351905.4:n.529+5849_529+5859del
NM_001024847.2:c.529+5849_529+5859del , LRG_779t1:c.529+5849_529+5859del NP_001020018.1:n.529+5849_529+5859del
NM_003242.5:c.454+5849_454+5859del NP_003233.4:n.454+5849_454+5859del
XM_011534043.1:c.481+5849_481+5859del XP_011532345.1:n.481+5849_481+5859del
XM_011534044.1:c.406+5849_406+5859del XP_011532346.1:n.406+5849_406+5859del
XM_011534045.1:c.349+5849_349+5859del XP_011532347.1:n.349+5849_349+5859del
XR_940692.1:n.2828_2838del
XM_011534043.2:c.481+5849_481+5859del XP_011532345.1:n.481+5849_481+5859del
XM_011534045.3:c.349+5849_349+5859del XP_011532347.1:n.349+5849_349+5859del
XM_017007106.1:c.349+5849_349+5859del XP_016862595.1:n.349+5849_349+5859del
XR_001740630.1:n.2330_2340del
XR_001740631.1:n.647-1398_647-1388del
NM_003242.6:c.454+5849_454+5859del MANE Select NP_003233.4:n.454+5849_454+5859del