Canonical Allele Identifier: CA2664866506

Gene: TGFBR2

Linked Data

• gnomAD v4: 3-30606693-C-CTGGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30606694_30606695insGGGGT , CM000665.2:g.30606694_30606695insGGGGT	GRCh38
NC_000003.11:g.30648186_30648187insGGGGT , CM000665.1:g.30648186_30648187insGGGGT	GRCh37
NC_000003.10:g.30623190_30623191insGGGGT	NCBI36
NG_007490.1:g.5193_5194insGGGGT , LRG_779:g.5193_5194insGGGGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.-190_-189insGGGGT MANE Select	ENSP00000295754.5:n.-190_-189insGGGGT
ENST00000295754.9:c.-190_-189insGGGGT	ENSP00000295754.5:n.-190_-189insGGGGT
ENST00000359013.4:c.-190_-189insGGGGT	ENSP00000351905.4:n.-190_-189insGGGGT
NM_001024847.2:c.-190_-189insGGGGT , LRG_779t1:c.-190_-189insGGGGT	NP_001020018.1:n.-190_-189insGGGGT
NM_003242.5:c.-190_-189insGGGGT	NP_003233.4:n.-190_-189insGGGGT
XM_011534045.1:c.-12+101_-12+102insGGGGT	XP_011532347.1:n.-12+101_-12+102insGGGGT
XM_011534045.3:c.-12+101_-12+102insGGGGT	XP_011532347.1:n.-12+101_-12+102insGGGGT
NM_003242.6:c.-190_-189insGGGGT MANE Select	NP_003233.4:n.-190_-189insGGGGT