Canonical Allele Identifier: CA050726

Gene: TGFBR2

Linked Data

• dbSNP Id: rs193922666
• ExAC: 3:30713659 C / A
• gnomAD v2: 3-30713659-C-A
• gnomAD v4: 3-30672167-C-A
• MyVariant Identifiers: chr3:g.30713659C>A (hg19) ; chr3:g.30672167C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30672167C>A , CM000665.2:g.30672167C>A	GRCh38
NC_000003.11:g.30713659C>A , CM000665.1:g.30713659C>A	GRCh37
NC_000003.10:g.30688663C>A	NCBI36
NG_007490.1:g.70666C>A , LRG_779:g.70666C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.984C>A MANE Select	ENSP00000295754.5:p.His328Gln
ENST00000672866.1:n.2580C>A
ENST00000295754.9:c.984C>A	ENSP00000295754.5:p.His328Gln
ENST00000359013.4:c.1059C>A	ENSP00000351905.4:p.His353Gln
NM_001024847.2:c.1059C>A , LRG_779t1:c.1059C>A	NP_001020018.1:p.His353Gln
NM_003242.5:c.984C>A	NP_003233.4:p.His328Gln
XM_011534043.1:c.1011C>A	XP_011532345.1:p.His337Gln
XM_011534044.1:c.936C>A	XP_011532346.1:p.His312Gln
XM_011534045.1:c.879C>A	XP_011532347.1:p.His293Gln
XM_011534043.2:c.1011C>A	XP_011532345.1:p.His337Gln
XM_011534045.3:c.879C>A	XP_011532347.1:p.His293Gln
XM_017007106.1:c.879C>A	XP_016862595.1:p.His293Gln
NM_003242.6:c.984C>A MANE Select	NP_003233.4:p.His328Gln