Canonical Allele Identifier: CA2664866627

Gene: TGFBR2

Linked Data

• gnomAD v4: 3-30606780-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30606780_30606781insT , CM000665.2:g.30606780_30606781insT	GRCh38
NC_000003.11:g.30648272_30648273insT , CM000665.1:g.30648272_30648273insT	GRCh37
NC_000003.10:g.30623276_30623277insT	NCBI36
NG_007490.1:g.5279_5280insT , LRG_779:g.5279_5280insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.-104_-103insT MANE Select	ENSP00000295754.5:n.-104_-103insT
ENST00000295754.9:c.-104_-103insT	ENSP00000295754.5:n.-104_-103insT
ENST00000359013.4:c.-104_-103insT	ENSP00000351905.4:n.-104_-103insT
NM_001024847.2:c.-104_-103insT , LRG_779t1:c.-104_-103insT	NP_001020018.1:n.-104_-103insT
NM_003242.5:c.-104_-103insT	NP_003233.4:n.-104_-103insT
XM_011534045.1:c.-12+187_-12+188insT	XP_011532347.1:n.-12+187_-12+188insT
XM_011534045.3:c.-12+187_-12+188insT	XP_011532347.1:n.-12+187_-12+188insT
NM_003242.6:c.-104_-103insT MANE Select	NP_003233.4:n.-104_-103insT