Canonical Allele Identifier: CA1354874063

Gene: TGFBR2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30674285_30674288delinsGTCT , CM000665.2:g.30674285_30674288delinsGTCT	GRCh38
NC_000003.11:g.30715777_30715780delinsGTCT , CM000665.1:g.30715777_30715780delinsGTCT	GRCh37
NC_000003.10:g.30690781_30690784delinsGTCT	NCBI36
NG_007490.1:g.72784_72787delinsGTCT , LRG_779:g.72784_72787delinsGTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.1396+39_1396+42delinsGTCT MANE Select	ENSP00000295754.5:n.1396+39_1396+42delinsGTCT
ENST00000672866.1:n.2992+39_2992+42delinsGTCT
ENST00000673203.1:n.274+39_274+42delinsGTCT
ENST00000295754.9:c.1396+39_1396+42delinsGTCT	ENSP00000295754.5:n.1396+39_1396+42delinsGTCT
ENST00000359013.4:c.1471+39_1471+42delinsGTCT	ENSP00000351905.4:n.1471+39_1471+42delinsGTCT
NM_001024847.2:c.1471+39_1471+42delinsGTCT , LRG_779t1:c.1471+39_1471+42delinsGTCT	NP_001020018.1:n.1471+39_1471+42delinsGTCT
NM_003242.5:c.1396+39_1396+42delinsGTCT	NP_003233.4:n.1396+39_1396+42delinsGTCT
XM_011534043.1:c.1423+39_1423+42delinsGTCT	XP_011532345.1:n.1423+39_1423+42delinsGTCT
XM_011534044.1:c.1348+39_1348+42delinsGTCT	XP_011532346.1:n.1348+39_1348+42delinsGTCT
XM_011534045.1:c.1291+39_1291+42delinsGTCT	XP_011532347.1:n.1291+39_1291+42delinsGTCT
XM_011534043.2:c.1423+39_1423+42delinsGTCT	XP_011532345.1:n.1423+39_1423+42delinsGTCT
XM_011534045.3:c.1291+39_1291+42delinsGTCT	XP_011532347.1:n.1291+39_1291+42delinsGTCT
XM_017007106.1:c.1291+39_1291+42delinsGTCT	XP_016862595.1:n.1291+39_1291+42delinsGTCT
NM_003242.6:c.1396+39_1396+42delinsGTCT MANE Select	NP_003233.4:n.1396+39_1396+42delinsGTCT