Canonical Allele Identifier: CA1046445347

Gene: TGFBR2

Linked Data

• dbSNP Id: rs1697926566
• gnomAD v3: 3-30606710-GCCTCCAGGCCC-G
• gnomAD v4: 3-30606710-GCCTCCAGGCCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30606716_30606726del , CM000665.2:g.30606716_30606726del	GRCh38
NC_000003.11:g.30648208_30648218del , CM000665.1:g.30648208_30648218del	GRCh37
NC_000003.10:g.30623212_30623222del	NCBI36
NG_007490.1:g.5215_5225del , LRG_779:g.5215_5225del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.-168_-158del MANE Select	ENSP00000295754.5:n.-168_-158del
ENST00000295754.9:c.-168_-158del	ENSP00000295754.5:n.-168_-158del
ENST00000359013.4:c.-168_-158del	ENSP00000351905.4:n.-168_-158del
NM_001024847.2:c.-168_-158del , LRG_779t1:c.-168_-158del	NP_001020018.1:n.-168_-158del
NM_003242.5:c.-168_-158del	NP_003233.4:n.-168_-158del
XM_011534045.1:c.-12+123_-12+133del	XP_011532347.1:n.-12+123_-12+133del
XM_011534045.3:c.-12+123_-12+133del	XP_011532347.1:n.-12+123_-12+133del
NM_003242.6:c.-168_-158del MANE Select	NP_003233.4:n.-168_-158del