Canonical Allele Identifier: CA351809167

Gene: TGFBR2

Linked Data

• gnomAD v4: 3-30674243-G-A
• MyVariant Identifiers: chr3:g.30715735G>A (hg19) ; chr3:g.30674243G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30674243G>A , CM000665.2:g.30674243G>A	GRCh38
NC_000003.11:g.30715735G>A , CM000665.1:g.30715735G>A	GRCh37
NC_000003.10:g.30690739G>A	NCBI36
NG_007490.1:g.72742G>A , LRG_779:g.72742G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.1393G>A MANE Select	ENSP00000295754.5:p.Gly465Arg
ENST00000672866.1:n.2989G>A
ENST00000673203.1:n.271G>A
ENST00000295754.9:c.1393G>A	ENSP00000295754.5:p.Gly465Arg
ENST00000359013.4:c.1468G>A	ENSP00000351905.4:p.Gly490Arg
NM_001024847.2:c.1468G>A , LRG_779t1:c.1468G>A	NP_001020018.1:p.Gly490Arg
NM_003242.5:c.1393G>A	NP_003233.4:p.Gly465Arg
XM_011534043.1:c.1420G>A	XP_011532345.1:p.Gly474Arg
XM_011534044.1:c.1345G>A	XP_011532346.1:p.Gly449Arg
XM_011534045.1:c.1288G>A	XP_011532347.1:p.Gly430Arg
XM_011534043.2:c.1420G>A	XP_011532345.1:p.Gly474Arg
XM_011534045.3:c.1288G>A	XP_011532347.1:p.Gly430Arg
XM_017007106.1:c.1288G>A	XP_016862595.1:p.Gly430Arg
NM_003242.6:c.1393G>A MANE Select	NP_003233.4:p.Gly465Arg