Canonical Allele Identifier: CA913188059

Gene: TGFBR2

Linked Data

• ClinVar Variation Id: 927474
• ClinVar RCV Id: RCV001190783
• dbSNP Id: rs1699355189

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30672222del , CM000665.2:g.30672222del	GRCh38
NC_000003.11:g.30713714del , CM000665.1:g.30713714del	GRCh37
NC_000003.10:g.30688718del	NCBI36
NG_007490.1:g.70721del , LRG_779:g.70721del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.1039del MANE Select	ENSP00000295754.5:p.Leu347CysfsTer?
ENST00000672866.1:n.2635del
ENST00000295754.9:c.1039del	ENSP00000295754.5:p.Leu347CysfsTer?
ENST00000359013.4:c.1114del	ENSP00000351905.4:p.Leu372CysfsTer?
NM_001024847.2:c.1114del , LRG_779t1:c.1114del	NP_001020018.1:p.Leu372CysfsTer?
NM_003242.5:c.1039del	NP_003233.4:p.Leu347CysfsTer?
XM_011534043.1:c.1066del	XP_011532345.1:p.Leu356CysfsTer?
XM_011534044.1:c.991del	XP_011532346.1:p.Leu331CysfsTer?
XM_011534045.1:c.934del	XP_011532347.1:p.Leu312CysfsTer?
XM_011534043.2:c.1066del	XP_011532345.1:p.Leu356CysfsTer?
XM_011534045.3:c.934del	XP_011532347.1:p.Leu312CysfsTer?
XM_017007106.1:c.934del	XP_016862595.1:p.Leu312CysfsTer?
NM_003242.6:c.1039del MANE Select	NP_003233.4:p.Leu347CysfsTer?