Canonical Allele Identifier: CA2664866631

Gene: TGFBR2

Linked Data

• gnomAD v4: 3-30606783-G-GTGT

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30606783_30606784insTGT , CM000665.2:g.30606783_30606784insTGT	GRCh38
NC_000003.11:g.30648275_30648276insTGT , CM000665.1:g.30648275_30648276insTGT	GRCh37
NC_000003.10:g.30623279_30623280insTGT	NCBI36
NG_007490.1:g.5282_5283insTGT , LRG_779:g.5282_5283insTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.-101_-100insTGT MANE Select	ENSP00000295754.5:n.-101_-100insTGT
ENST00000295754.9:c.-101_-100insTGT	ENSP00000295754.5:n.-101_-100insTGT
ENST00000359013.4:c.-101_-100insTGT	ENSP00000351905.4:n.-101_-100insTGT
NM_001024847.2:c.-101_-100insTGT , LRG_779t1:c.-101_-100insTGT	NP_001020018.1:n.-101_-100insTGT
NM_003242.5:c.-101_-100insTGT	NP_003233.4:n.-101_-100insTGT
XM_011534045.1:c.-12+190_-12+191insTGT	XP_011532347.1:n.-12+190_-12+191insTGT
XM_011534045.3:c.-12+190_-12+191insTGT	XP_011532347.1:n.-12+190_-12+191insTGT
NM_003242.6:c.-101_-100insTGT MANE Select	NP_003233.4:n.-101_-100insTGT