Canonical Allele Identifier: CA045319

Gene: TGFBR2

Linked Data

• dbSNP Id: rs775897166
• ExAC: 3:30713676 A / G
• gnomAD v2: 3-30713676-A-G
• gnomAD v4: 3-30672184-A-G
• MyVariant Identifiers: chr3:g.30713676A>G (hg19) ; chr3:g.30672184A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30672184A>G , CM000665.2:g.30672184A>G	GRCh38
NC_000003.11:g.30713676A>G , CM000665.1:g.30713676A>G	GRCh37
NC_000003.10:g.30688680A>G	NCBI36
NG_007490.1:g.70683A>G , LRG_779:g.70683A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.1001A>G MANE Select	ENSP00000295754.5:p.Gln334Arg
ENST00000672866.1:n.2597A>G
ENST00000295754.9:c.1001A>G	ENSP00000295754.5:p.Gln334Arg
ENST00000359013.4:c.1076A>G	ENSP00000351905.4:p.Gln359Arg
NM_001024847.2:c.1076A>G , LRG_779t1:c.1076A>G	NP_001020018.1:p.Gln359Arg
NM_003242.5:c.1001A>G	NP_003233.4:p.Gln334Arg
XM_011534043.1:c.1028A>G	XP_011532345.1:p.Gln343Arg
XM_011534044.1:c.953A>G	XP_011532346.1:p.Gln318Arg
XM_011534045.1:c.896A>G	XP_011532347.1:p.Gln299Arg
XM_011534043.2:c.1028A>G	XP_011532345.1:p.Gln343Arg
XM_011534045.3:c.896A>G	XP_011532347.1:p.Gln299Arg
XM_017007106.1:c.896A>G	XP_016862595.1:p.Gln299Arg
NM_003242.6:c.1001A>G MANE Select	NP_003233.4:p.Gln334Arg