Canonical Allele Identifier: CA351807581

Gene: TGFBR2

Linked Data

• ClinVar Variation Id: 1332449
• ClinVar RCV Id: RCV001805495
• dbSNP Id: rs2125433876
• MyVariant Identifiers: chr3:g.30713331T>A (hg19) ; chr3:g.30671839T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30671839T>A , CM000665.2:g.30671839T>A	GRCh38
NC_000003.11:g.30713331T>A , CM000665.1:g.30713331T>A	GRCh37
NC_000003.10:g.30688335T>A	NCBI36
NG_007490.1:g.70338T>A , LRG_779:g.70338T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.656T>A MANE Select	ENSP00000295754.5:p.Ile219Asn
ENST00000672866.1:n.2252T>A
ENST00000295754.9:c.656T>A	ENSP00000295754.5:p.Ile219Asn
ENST00000359013.4:c.731T>A	ENSP00000351905.4:p.Ile244Asn
NM_001024847.2:c.731T>A , LRG_779t1:c.731T>A	NP_001020018.1:p.Ile244Asn
NM_003242.5:c.656T>A	NP_003233.4:p.Ile219Asn
XM_011534043.1:c.683T>A	XP_011532345.1:p.Ile228Asn
XM_011534044.1:c.608T>A	XP_011532346.1:p.Ile203Asn
XM_011534045.1:c.551T>A	XP_011532347.1:p.Ile184Asn
XM_011534043.2:c.683T>A	XP_011532345.1:p.Ile228Asn
XM_011534045.3:c.551T>A	XP_011532347.1:p.Ile184Asn
XM_017007106.1:c.551T>A	XP_016862595.1:p.Ile184Asn
NM_003242.6:c.656T>A MANE Select	NP_003233.4:p.Ile219Asn