Canonical Allele Identifier: CA049238

Gene: TGFBR2

Linked Data

• ClinVar Variation Id: 408439
• ClinVar RCV Id: RCV000481213 ; RCV000466091 ; RCV004000768
• dbSNP Id: rs368346624
• ExAC: 3:30713231 T / A
• gnomAD v2: 3-30713231-T-A
• gnomAD v3: 3-30671739-T-A
• gnomAD v4: 3-30671739-T-A
• MyVariant Identifiers: chr3:g.30713231T>A (hg19) ; chr3:g.30671739T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30671739T>A , CM000665.2:g.30671739T>A	GRCh38
NC_000003.11:g.30713231T>A , CM000665.1:g.30713231T>A	GRCh37
NC_000003.10:g.30688235T>A	NCBI36
NG_007490.1:g.70238T>A , LRG_779:g.70238T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.556T>A MANE Select	ENSP00000295754.5:p.Phe186Ile
ENST00000672866.1:n.2152T>A
ENST00000295754.9:c.556T>A	ENSP00000295754.5:p.Phe186Ile
ENST00000359013.4:c.631T>A	ENSP00000351905.4:p.Phe211Ile
NM_001024847.2:c.631T>A , LRG_779t1:c.631T>A	NP_001020018.1:p.Phe211Ile
NM_003242.5:c.556T>A	NP_003233.4:p.Phe186Ile
XM_011534043.1:c.583T>A	XP_011532345.1:p.Phe195Ile
XM_011534044.1:c.508T>A	XP_011532346.1:p.Phe170Ile
XM_011534045.1:c.451T>A	XP_011532347.1:p.Phe151Ile
XM_011534043.2:c.583T>A	XP_011532345.1:p.Phe195Ile
XM_011534045.3:c.451T>A	XP_011532347.1:p.Phe151Ile
XM_017007106.1:c.451T>A	XP_016862595.1:p.Phe151Ile
NM_003242.6:c.556T>A MANE Select	NP_003233.4:p.Phe186Ile