Canonical Allele Identifier: CA2664867856

Gene: TGFBR2

Linked Data

• gnomAD v4: 3-30674383-A-AAATAGTTCTGGGAT

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30674383_30674384insAATAGTTCTGGGAT , CM000665.2:g.30674383_30674384insAATAGTTCTGGGAT	GRCh38
NC_000003.11:g.30715875_30715876insAATAGTTCTGGGAT , CM000665.1:g.30715875_30715876insAATAGTTCTGGGAT	GRCh37
NC_000003.10:g.30690879_30690880insAATAGTTCTGGGAT	NCBI36
NG_007490.1:g.72882_72883insAATAGTTCTGGGAT , LRG_779:g.72882_72883insAATAGTTCTGGGAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.1396+137_1396+138insAATAGTTCTGGGAT MANE Select	ENSP00000295754.5:n.1396+137_1396+138insAATAGTTCTGGGAT
ENST00000672866.1:n.2992+137_2992+138insAATAGTTCTGGGAT
ENST00000673203.1:n.274+137_274+138insAATAGTTCTGGGAT
ENST00000295754.9:c.1396+137_1396+138insAATAGTTCTGGGAT	ENSP00000295754.5:n.1396+137_1396+138insAATAGTTCTGGGAT
ENST00000359013.4:c.1471+137_1471+138insAATAGTTCTGGGAT	ENSP00000351905.4:n.1471+137_1471+138insAATAGTTCTGGGAT
NM_001024847.2:c.1471+137_1471+138insAATAGTTCTGGGAT , LRG_779t1:c.1471+137_1471+138insAATAGTTCTGGGAT	NP_001020018.1:n.1471+137_1471+138insAATAGTTCTGGGAT
NM_003242.5:c.1396+137_1396+138insAATAGTTCTGGGAT	NP_003233.4:n.1396+137_1396+138insAATAGTTCTGGGAT
XM_011534043.1:c.1423+137_1423+138insAATAGTTCTGGGAT	XP_011532345.1:n.1423+137_1423+138insAATAGTTCTGGGAT
XM_011534044.1:c.1348+137_1348+138insAATAGTTCTGGGAT	XP_011532346.1:n.1348+137_1348+138insAATAGTTCTGGGAT
XM_011534045.1:c.1291+137_1291+138insAATAGTTCTGGGAT	XP_011532347.1:n.1291+137_1291+138insAATAGTTCTGGGAT
XM_011534043.2:c.1423+137_1423+138insAATAGTTCTGGGAT	XP_011532345.1:n.1423+137_1423+138insAATAGTTCTGGGAT
XM_011534045.3:c.1291+137_1291+138insAATAGTTCTGGGAT	XP_011532347.1:n.1291+137_1291+138insAATAGTTCTGGGAT
XM_017007106.1:c.1291+137_1291+138insAATAGTTCTGGGAT	XP_016862595.1:n.1291+137_1291+138insAATAGTTCTGGGAT
NM_003242.6:c.1396+137_1396+138insAATAGTTCTGGGAT MANE Select	NP_003233.4:n.1396+137_1396+138insAATAGTTCTGGGAT