Canonical Allele Identifier: CA1354874042

Gene: TGFBR2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30674250_30674257delinsGGTGTGGA , CM000665.2:g.30674250_30674257delinsGGTGTGGA	GRCh38
NC_000003.11:g.30715742_30715749delinsGGTGTGGA , CM000665.1:g.30715742_30715749delinsGGTGTGGA	GRCh37
NC_000003.10:g.30690746_30690753delinsGGTGTGGA	NCBI36
NG_007490.1:g.72749_72756delinsGGTGTGGA , LRG_779:g.72749_72756delinsGGTGTGGA

Transcript Alleles

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