Canonical Allele Identifier: CA2664866641

Gene: TGFBR2

Linked Data

• gnomAD v4: 3-30606788-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30606788_30606789insT , CM000665.2:g.30606788_30606789insT	GRCh38
NC_000003.11:g.30648280_30648281insT , CM000665.1:g.30648280_30648281insT	GRCh37
NC_000003.10:g.30623284_30623285insT	NCBI36
NG_007490.1:g.5287_5288insT , LRG_779:g.5287_5288insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.-96_-95insT MANE Select	ENSP00000295754.5:n.-96_-95insT
ENST00000295754.9:c.-96_-95insT	ENSP00000295754.5:n.-96_-95insT
ENST00000359013.4:c.-96_-95insT	ENSP00000351905.4:n.-96_-95insT
NM_001024847.2:c.-96_-95insT , LRG_779t1:c.-96_-95insT	NP_001020018.1:n.-96_-95insT
NM_003242.5:c.-96_-95insT	NP_003233.4:n.-96_-95insT
XM_011534045.1:c.-12+195_-12+196insT	XP_011532347.1:n.-12+195_-12+196insT
XM_011534045.3:c.-12+195_-12+196insT	XP_011532347.1:n.-12+195_-12+196insT
NM_003242.6:c.-96_-95insT MANE Select	NP_003233.4:n.-96_-95insT