Canonical Allele Identifier: CA2702371626

Gene: TGFBR2

Linked Data

• dbSNP Id: rs2125435477

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30672163_30672164insGATCAG , CM000665.2:g.30672163_30672164insGATCAG	GRCh38
NC_000003.11:g.30713655_30713656insGATCAG , CM000665.1:g.30713655_30713656insGATCAG	GRCh37
NC_000003.10:g.30688659_30688660insGATCAG	NCBI36
NG_007490.1:g.70662_70663insGATCAG , LRG_779:g.70662_70663insGATCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.980_981insGATCAG MANE Select	ENSP00000295754.5:p.Phe327delinsLeuIleSer
ENST00000672866.1:n.2576_2577insGATCAG
ENST00000295754.9:c.980_981insGATCAG	ENSP00000295754.5:p.Phe327delinsLeuIleSer
ENST00000359013.4:c.1055_1056insGATCAG	ENSP00000351905.4:p.Phe352delinsLeuIleSer
NM_001024847.2:c.1055_1056insGATCAG , LRG_779t1:c.1055_1056insGATCAG	NP_001020018.1:p.Phe352delinsLeuIleSer
NM_003242.5:c.980_981insGATCAG	NP_003233.4:p.Phe327delinsLeuIleSer
XM_011534043.1:c.1007_1008insGATCAG	XP_011532345.1:p.Phe336delinsLeuIleSer
XM_011534044.1:c.932_933insGATCAG	XP_011532346.1:p.Phe311delinsLeuIleSer
XM_011534045.1:c.875_876insGATCAG	XP_011532347.1:p.Phe292delinsLeuIleSer
XM_011534043.2:c.1007_1008insGATCAG	XP_011532345.1:p.Phe336delinsLeuIleSer
XM_011534045.3:c.875_876insGATCAG	XP_011532347.1:p.Phe292delinsLeuIleSer
XM_017007106.1:c.875_876insGATCAG	XP_016862595.1:p.Phe292delinsLeuIleSer
NM_003242.6:c.980_981insGATCAG MANE Select	NP_003233.4:p.Phe327delinsLeuIleSer