Canonical Allele Identifier: CA020712

Gene: TGFBR2

Linked Data

• ClinVar Variation Id: 180541
• ClinVar RCV Id: RCV000157520 ; RCV000225734 ; RCV000995668 ; RCV000987137 ; RCV001042957
• dbSNP Id: rs727504421
• COSMIC: COSM287428 ; COSM4733386
• MyVariant Identifiers: chr3:g.30732957G>A (hg19) ; chr3:g.30691465G>A (hg38)
• PubMed: PMID:16928994 ; PMID:17470566

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30691465G>A , CM000665.2:g.30691465G>A	GRCh38
NC_000003.11:g.30732957G>A , CM000665.1:g.30732957G>A	GRCh37
NC_000003.10:g.30707961G>A	NCBI36
NG_007490.1:g.89964G>A , LRG_779:g.89964G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.1570G>A MANE Select	ENSP00000295754.5:p.Asp524Asn
ENST00000672050.1:n.454G>A
ENST00000672866.1:n.3166G>A
ENST00000673203.1:n.448G>A
ENST00000295754.9:c.1570G>A	ENSP00000295754.5:p.Asp524Asn
ENST00000359013.4:c.1645G>A	ENSP00000351905.4:p.Asp549Asn
NM_001024847.2:c.1645G>A , LRG_779t1:c.1645G>A	NP_001020018.1:p.Asp549Asn
NM_003242.5:c.1570G>A	NP_003233.4:p.Asp524Asn
XM_011534043.1:c.1597G>A	XP_011532345.1:p.Asp533Asn
XM_011534044.1:c.1522G>A	XP_011532346.1:p.Asp508Asn
XM_011534045.1:c.1465G>A	XP_011532347.1:p.Asp489Asn
XM_011534043.2:c.1597G>A	XP_011532345.1:p.Asp533Asn
XM_011534045.3:c.1465G>A	XP_011532347.1:p.Asp489Asn
XM_017007106.1:c.1465G>A	XP_016862595.1:p.Asp489Asn
NM_003242.6:c.1570G>A MANE Select	NP_003233.4:p.Asp524Asn