Canonical Allele Identifier: CA10587569

Gene: TGFBR2

Linked Data

• ClinVar Variation Id: 264260
• ClinVar RCV Id: RCV000253481
• dbSNP Id: rs886039106
• MyVariant Identifiers: chr3:g.30713853G>A (hg19) ; chr3:g.30672361G>A (hg38)
• PubMed: PMID:23884466 ; PMID:27879313

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30672361G>A , CM000665.2:g.30672361G>A	GRCh38
NC_000003.11:g.30713853G>A , CM000665.1:g.30713853G>A	GRCh37
NC_000003.10:g.30688857G>A	NCBI36
NG_007490.1:g.70860G>A , LRG_779:g.70860G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.1178G>A MANE Select	ENSP00000295754.5:p.Cys393Tyr
ENST00000672866.1:n.2774G>A
ENST00000295754.9:c.1178G>A	ENSP00000295754.5:p.Cys393Tyr
ENST00000359013.4:c.1253G>A	ENSP00000351905.4:p.Cys418Tyr
NM_001024847.2:c.1253G>A , LRG_779t1:c.1253G>A	NP_001020018.1:p.Cys418Tyr
NM_003242.5:c.1178G>A	NP_003233.4:p.Cys393Tyr
XM_011534043.1:c.1205G>A	XP_011532345.1:p.Cys402Tyr
XM_011534044.1:c.1130G>A	XP_011532346.1:p.Cys377Tyr
XM_011534045.1:c.1073G>A	XP_011532347.1:p.Cys358Tyr
XM_011534043.2:c.1205G>A	XP_011532345.1:p.Cys402Tyr
XM_011534045.3:c.1073G>A	XP_011532347.1:p.Cys358Tyr
XM_017007106.1:c.1073G>A	XP_016862595.1:p.Cys358Tyr
NM_003242.6:c.1178G>A MANE Select	NP_003233.4:p.Cys393Tyr