Canonical Allele Identifier: CA2702371006

Gene: TGFBR2

Linked Data

• dbSNP Id: rs2125435367

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30672149del , CM000665.2:g.30672149del	GRCh38
NC_000003.11:g.30713641del , CM000665.1:g.30713641del	GRCh37
NC_000003.10:g.30688645del	NCBI36
NG_007490.1:g.70648del , LRG_779:g.70648del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.966del MANE Select	ENSP00000295754.5:p.Trp322CysfsTer2
ENST00000672866.1:n.2562del
ENST00000295754.9:c.966del	ENSP00000295754.5:p.Trp322CysfsTer2
ENST00000359013.4:c.1041del	ENSP00000351905.4:p.Trp347CysfsTer2
NM_001024847.2:c.1041del , LRG_779t1:c.1041del	NP_001020018.1:p.Trp347CysfsTer2
NM_003242.5:c.966del	NP_003233.4:p.Trp322CysfsTer2
XM_011534043.1:c.993del	XP_011532345.1:p.Trp331CysfsTer2
XM_011534044.1:c.918del	XP_011532346.1:p.Trp306CysfsTer2
XM_011534045.1:c.861del	XP_011532347.1:p.Trp287CysfsTer2
XM_011534043.2:c.993del	XP_011532345.1:p.Trp331CysfsTer2
XM_011534045.3:c.861del	XP_011532347.1:p.Trp287CysfsTer2
XM_017007106.1:c.861del	XP_016862595.1:p.Trp287CysfsTer2
NM_003242.6:c.966del MANE Select	NP_003233.4:p.Trp322CysfsTer2