Canonical Allele Identifier: CA020717

Gene: TGFBR2

Linked Data

• ClinVar Variation Id: 177953
• ClinVar RCV Id: RCV000154616 ; RCV001051221
• dbSNP Id: rs727504421
• gnomAD v4: 3-30691465-G-T
• COSMIC: COSM84786
• MyVariant Identifiers: chr3:g.30732957G>T (hg19) ; chr3:g.30691465G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.1570G>T MANE Select	ENSP00000295754.5:p.Asp524Tyr
ENST00000672050.1:n.454G>T
ENST00000672866.1:n.3166G>T
ENST00000673203.1:n.448G>T
ENST00000295754.9:c.1570G>T	ENSP00000295754.5:p.Asp524Tyr
ENST00000359013.4:c.1645G>T	ENSP00000351905.4:p.Asp549Tyr
NM_001024847.2:c.1645G>T , LRG_779t1:c.1645G>T	NP_001020018.1:p.Asp549Tyr
NM_003242.5:c.1570G>T	NP_003233.4:p.Asp524Tyr
XM_011534043.1:c.1597G>T	XP_011532345.1:p.Asp533Tyr
XM_011534044.1:c.1522G>T	XP_011532346.1:p.Asp508Tyr
XM_011534045.1:c.1465G>T	XP_011532347.1:p.Asp489Tyr
XM_011534043.2:c.1597G>T	XP_011532345.1:p.Asp533Tyr
XM_011534045.3:c.1465G>T	XP_011532347.1:p.Asp489Tyr
XM_017007106.1:c.1465G>T	XP_016862595.1:p.Asp489Tyr
NM_003242.6:c.1570G>T MANE Select	NP_003233.4:p.Asp524Tyr