Canonical Allele Identifier: CA2664866656

Gene: TGFBR2

Linked Data

• gnomAD v4: 3-30606797-G-GT

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30606797_30606798insT , CM000665.2:g.30606797_30606798insT	GRCh38
NC_000003.11:g.30648289_30648290insT , CM000665.1:g.30648289_30648290insT	GRCh37
NC_000003.10:g.30623293_30623294insT	NCBI36
NG_007490.1:g.5296_5297insT , LRG_779:g.5296_5297insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.-87_-86insT MANE Select	ENSP00000295754.5:n.-87_-86insT
ENST00000295754.9:c.-87_-86insT	ENSP00000295754.5:n.-87_-86insT
ENST00000359013.4:c.-87_-86insT	ENSP00000351905.4:n.-87_-86insT
NM_001024847.2:c.-87_-86insT , LRG_779t1:c.-87_-86insT	NP_001020018.1:n.-87_-86insT
NM_003242.5:c.-87_-86insT	NP_003233.4:n.-87_-86insT
XM_011534045.1:c.-12+204_-12+205insT	XP_011532347.1:n.-12+204_-12+205insT
XM_011534045.3:c.-12+204_-12+205insT	XP_011532347.1:n.-12+204_-12+205insT
NM_003242.6:c.-87_-86insT MANE Select	NP_003233.4:n.-87_-86insT