Canonical Allele Identifier: CA351809542

Gene: TGFBR2

Linked Data

• ClinVar Variation Id: 1066977
• ClinVar RCV Id: RCV001378116
• dbSNP Id: rs2125455181
• COSMIC: COSM129691
• MyVariant Identifiers: chr3:g.30732942G>A (hg19) ; chr3:g.30691450G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30691450G>A , CM000665.2:g.30691450G>A	GRCh38
NC_000003.11:g.30732942G>A , CM000665.1:g.30732942G>A	GRCh37
NC_000003.10:g.30707946G>A	NCBI36
NG_007490.1:g.89949G>A , LRG_779:g.89949G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.1555G>A MANE Select	ENSP00000295754.5:p.Glu519Lys
ENST00000672050.1:n.439G>A
ENST00000672866.1:n.3151G>A
ENST00000673203.1:n.433G>A
ENST00000295754.9:c.1555G>A	ENSP00000295754.5:p.Glu519Lys
ENST00000359013.4:c.1630G>A	ENSP00000351905.4:p.Glu544Lys
NM_001024847.2:c.1630G>A , LRG_779t1:c.1630G>A	NP_001020018.1:p.Glu544Lys
NM_003242.5:c.1555G>A	NP_003233.4:p.Glu519Lys
XM_011534043.1:c.1582G>A	XP_011532345.1:p.Glu528Lys
XM_011534044.1:c.1507G>A	XP_011532346.1:p.Glu503Lys
XM_011534045.1:c.1450G>A	XP_011532347.1:p.Glu484Lys
XM_011534043.2:c.1582G>A	XP_011532345.1:p.Glu528Lys
XM_011534045.3:c.1450G>A	XP_011532347.1:p.Glu484Lys
XM_017007106.1:c.1450G>A	XP_016862595.1:p.Glu484Lys
NM_003242.6:c.1555G>A MANE Select	NP_003233.4:p.Glu519Lys