Canonical Allele Identifier: CA351696

Gene: TGFBR2

Linked Data

• ClinVar Variation Id: 222838
• ClinVar RCV Id: RCV000208008
• dbSNP Id: rs869025536
• MyVariant Identifiers: chr3:g.30713448T>A (hg19) ; chr3:g.30671956T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30671956T>A , CM000665.2:g.30671956T>A	GRCh38
NC_000003.11:g.30713448T>A , CM000665.1:g.30713448T>A	GRCh37
NC_000003.10:g.30688452T>A	NCBI36
NG_007490.1:g.70455T>A , LRG_779:g.70455T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.773T>A MANE Select	ENSP00000295754.5:p.Val258Asp
ENST00000672866.1:n.2369T>A
ENST00000295754.9:c.773T>A	ENSP00000295754.5:p.Val258Asp
ENST00000359013.4:c.848T>A	ENSP00000351905.4:p.Val283Asp
NM_001024847.2:c.848T>A , LRG_779t1:c.848T>A	NP_001020018.1:p.Val283Asp
NM_003242.5:c.773T>A	NP_003233.4:p.Val258Asp
XM_011534043.1:c.800T>A	XP_011532345.1:p.Val267Asp
XM_011534044.1:c.725T>A	XP_011532346.1:p.Val242Asp
XM_011534045.1:c.668T>A	XP_011532347.1:p.Val223Asp
XM_011534043.2:c.800T>A	XP_011532345.1:p.Val267Asp
XM_011534045.3:c.668T>A	XP_011532347.1:p.Val223Asp
XM_017007106.1:c.668T>A	XP_016862595.1:p.Val223Asp
NM_003242.6:c.773T>A MANE Select	NP_003233.4:p.Val258Asp