Canonical Allele Identifier: CA049848

Gene: TGFBR2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30671944G>A , CM000665.2:g.30671944G>A	GRCh38
NC_000003.11:g.30713436G>A , CM000665.1:g.30713436G>A	GRCh37
NC_000003.10:g.30688440G>A	NCBI36
NG_007490.1:g.70443G>A , LRG_779:g.70443G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_003242.6:c.761G>A MANE Select	NP_003233.4:p.Arg254His
ENST00000295754.10:c.761G>A MANE Select	ENSP00000295754.5:p.Arg254His
NM_001024847.2:c.836G>A , LRG_779t1:c.836G>A	NP_001020018.1:p.Arg279His
NM_003242.5:c.761G>A	NP_003233.4:p.Arg254His
ENST00000295754.9:c.761G>A	ENSP00000295754.5:p.Arg254His
ENST00000359013.4:c.836G>A	ENSP00000351905.4:p.Arg279His
ENST00000672866.1:n.2357G>A
XM_011534043.1:c.788G>A	XP_011532345.1:p.Arg263His
XM_011534043.2:c.788G>A	XP_011532345.1:p.Arg263His
XM_011534044.1:c.713G>A	XP_011532346.1:p.Arg238His
XM_011534045.1:c.656G>A	XP_011532347.1:p.Arg219His
XM_011534045.3:c.656G>A	XP_011532347.1:p.Arg219His
XM_017007106.1:c.656G>A	XP_016862595.1:p.Arg219His