Canonical Allele Identifier: CA2664866564

Gene: TGFBR2

Linked Data

• gnomAD v4: 3-30606741-GCGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30606743_30606745del , CM000665.2:g.30606743_30606745del	GRCh38
NC_000003.11:g.30648235_30648237del , CM000665.1:g.30648235_30648237del	GRCh37
NC_000003.10:g.30623239_30623241del	NCBI36
NG_007490.1:g.5242_5244del , LRG_779:g.5242_5244del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.-141_-139del MANE Select	ENSP00000295754.5:n.-141_-139del
ENST00000295754.9:c.-141_-139del	ENSP00000295754.5:n.-141_-139del
ENST00000359013.4:c.-141_-139del	ENSP00000351905.4:n.-141_-139del
NM_001024847.2:c.-141_-139del , LRG_779t1:c.-141_-139del	NP_001020018.1:n.-141_-139del
NM_003242.5:c.-141_-139del	NP_003233.4:n.-141_-139del
XM_011534045.1:c.-12+150_-12+152del	XP_011532347.1:n.-12+150_-12+152del
XM_011534045.3:c.-12+150_-12+152del	XP_011532347.1:n.-12+150_-12+152del
NM_003242.6:c.-141_-139del MANE Select	NP_003233.4:n.-141_-139del