Canonical Allele Identifier: CA351808753

Gene: TGFBR2

Linked Data

• ClinVar Variation Id: 1747855
• ClinVar RCV Id: RCV002351545
• dbSNP Id: rs1575158141
• MyVariant Identifiers: chr3:g.30713877C>G (hg19) ; chr3:g.30672385C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30672385C>G , CM000665.2:g.30672385C>G	GRCh38
NC_000003.11:g.30713877C>G , CM000665.1:g.30713877C>G	GRCh37
NC_000003.10:g.30688881C>G	NCBI36
NG_007490.1:g.70884C>G , LRG_779:g.70884C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.1202C>G MANE Select	ENSP00000295754.5:p.Ser401Cys
ENST00000672866.1:n.2798C>G
ENST00000295754.9:c.1202C>G	ENSP00000295754.5:p.Ser401Cys
ENST00000359013.4:c.1277C>G	ENSP00000351905.4:p.Ser426Cys
NM_001024847.2:c.1277C>G , LRG_779t1:c.1277C>G	NP_001020018.1:p.Ser426Cys
NM_003242.5:c.1202C>G	NP_003233.4:p.Ser401Cys
XM_011534043.1:c.1229C>G	XP_011532345.1:p.Ser410Cys
XM_011534044.1:c.1154C>G	XP_011532346.1:p.Ser385Cys
XM_011534045.1:c.1097C>G	XP_011532347.1:p.Ser366Cys
XM_011534043.2:c.1229C>G	XP_011532345.1:p.Ser410Cys
XM_011534045.3:c.1097C>G	XP_011532347.1:p.Ser366Cys
XM_017007106.1:c.1097C>G	XP_016862595.1:p.Ser366Cys
NM_003242.6:c.1202C>G MANE Select	NP_003233.4:p.Ser401Cys