Canonical Allele Identifier: CA020776

Gene: TGFBR2

Linked Data

• ClinVar Variation Id: 137635
• ClinVar RCV Id: RCV000125486 ; RCV000228364 ; RCV000313129 ; RCV000352880 ; RCV000589501 ; RCV002498604
• dbSNP Id: rs56105708
• ExAC: 3:30713246 G / A
• gnomAD v2: 3-30713246-G-A
• gnomAD v3: 3-30671754-G-A
• gnomAD v4: 3-30671754-G-A
• MyVariant Identifiers: chr3:g.30713246G>A (hg19) ; chr3:g.30671754G>A (hg38)
• PubMed: PMID:12202987 ; PMID:16791849 ; PMID:23228659

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30671754G>A , CM000665.2:g.30671754G>A	GRCh38
NC_000003.11:g.30713246G>A , CM000665.1:g.30713246G>A	GRCh37
NC_000003.10:g.30688250G>A	NCBI36
NG_007490.1:g.70253G>A , LRG_779:g.70253G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.571G>A MANE Select	ENSP00000295754.5:p.Val191Ile
ENST00000672866.1:n.2167G>A
ENST00000295754.9:c.571G>A	ENSP00000295754.5:p.Val191Ile
ENST00000359013.4:c.646G>A	ENSP00000351905.4:p.Val216Ile
NM_001024847.2:c.646G>A , LRG_779t1:c.646G>A	NP_001020018.1:p.Val216Ile
NM_003242.5:c.571G>A	NP_003233.4:p.Val191Ile
XM_011534043.1:c.598G>A	XP_011532345.1:p.Val200Ile
XM_011534044.1:c.523G>A	XP_011532346.1:p.Val175Ile
XM_011534045.1:c.466G>A	XP_011532347.1:p.Val156Ile
XM_011534043.2:c.598G>A	XP_011532345.1:p.Val200Ile
XM_011534045.3:c.466G>A	XP_011532347.1:p.Val156Ile
XM_017007106.1:c.466G>A	XP_016862595.1:p.Val156Ile
NM_003242.6:c.571G>A MANE Select	NP_003233.4:p.Val191Ile