Canonical Allele Identifier: CA2664866647

Gene: TGFBR2

Linked Data

• gnomAD v4: 3-30606791-GAGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30606792_30606794del , CM000665.2:g.30606792_30606794del	GRCh38
NC_000003.11:g.30648284_30648286del , CM000665.1:g.30648284_30648286del	GRCh37
NC_000003.10:g.30623288_30623290del	NCBI36
NG_007490.1:g.5291_5293del , LRG_779:g.5291_5293del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.-92_-90del MANE Select	ENSP00000295754.5:n.-92_-90del
ENST00000295754.9:c.-92_-90del	ENSP00000295754.5:n.-92_-90del
ENST00000359013.4:c.-92_-90del	ENSP00000351905.4:n.-92_-90del
NM_001024847.2:c.-92_-90del , LRG_779t1:c.-92_-90del	NP_001020018.1:n.-92_-90del
NM_003242.5:c.-92_-90del	NP_003233.4:n.-92_-90del
XM_011534045.1:c.-12+199_-12+201del	XP_011532347.1:n.-12+199_-12+201del
XM_011534045.3:c.-12+199_-12+201del	XP_011532347.1:n.-12+199_-12+201del
NM_003242.6:c.-92_-90del MANE Select	NP_003233.4:n.-92_-90del