Canonical Allele Identifier: CA2552716129
Gene: TGFBR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30689326del , CM000665.2:g.30689326del GRCh38
NC_000003.11:g.30730818del , CM000665.1:g.30730818del GRCh37
NC_000003.10:g.30705822del NCBI36
NG_007490.1:g.87825del , LRG_779:g.87825del

Transcript Alleles

HGVS Amino-acid Change
ENST00000295754.10:c.1524+815del MANE Select ENSP00000295754.5:n.1524+815del
ENST00000672050.1:n.408+815del
ENST00000672866.1:n.3120+815del
ENST00000673203.1:n.402+815del
ENST00000295754.9:c.1524+815del ENSP00000295754.5:n.1524+815del
ENST00000359013.4:c.1599+815del ENSP00000351905.4:n.1599+815del
NM_001024847.2:c.1599+815del , LRG_779t1:c.1599+815del NP_001020018.1:n.1599+815del
NM_003242.5:c.1524+815del NP_003233.4:n.1524+815del
XM_011534043.1:c.1551+815del XP_011532345.1:n.1551+815del
XM_011534044.1:c.1476+815del XP_011532346.1:n.1476+815del
XM_011534045.1:c.1419+815del XP_011532347.1:n.1419+815del
XM_011534043.2:c.1551+815del XP_011532345.1:n.1551+815del
XM_011534045.3:c.1419+815del XP_011532347.1:n.1419+815del
XM_017007106.1:c.1419+815del XP_016862595.1:n.1419+815del
NM_003242.6:c.1524+815del MANE Select NP_003233.4:n.1524+815del