Canonical Allele Identifier: CA2580614160

Gene: TGFBR2

Linked Data

• ClinVar Variation Id: 1764759
• ClinVar RCV Id: RCV002373738

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30672064_30672066del , CM000665.2:g.30672064_30672066del	GRCh38
NC_000003.11:g.30713556_30713558del , CM000665.1:g.30713556_30713558del	GRCh37
NC_000003.10:g.30688560_30688562del	NCBI36
NG_007490.1:g.70563_70565del , LRG_779:g.70563_70565del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.881_883del MANE Select	ENSP00000295754.5:p.Phe294del
ENST00000672866.1:n.2477_2479del
ENST00000295754.9:c.881_883del	ENSP00000295754.5:p.Phe294del
ENST00000359013.4:c.956_958del	ENSP00000351905.4:p.Phe319del
NM_001024847.2:c.956_958del , LRG_779t1:c.956_958del	NP_001020018.1:p.Phe319del
NM_003242.5:c.881_883del	NP_003233.4:p.Phe294del
XM_011534043.1:c.908_910del	XP_011532345.1:p.Phe303del
XM_011534044.1:c.833_835del	XP_011532346.1:p.Phe278del
XM_011534045.1:c.776_778del	XP_011532347.1:p.Phe259del
XM_011534043.2:c.908_910del	XP_011532345.1:p.Phe303del
XM_011534045.3:c.776_778del	XP_011532347.1:p.Phe259del
XM_017007106.1:c.776_778del	XP_016862595.1:p.Phe259del
NM_003242.6:c.881_883del MANE Select	NP_003233.4:p.Phe294del