Canonical Allele Identifier: CA020605

Gene: TGFBR2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30672302G>A , CM000665.2:g.30672302G>A	GRCh38
NC_000003.11:g.30713794G>A , CM000665.1:g.30713794G>A	GRCh37
NC_000003.10:g.30688798G>A	NCBI36
NG_007490.1:g.70801G>A , LRG_779:g.70801G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_003242.6:c.1119G>A MANE Select	NP_003233.4:p.Met373Ile
ENST00000295754.10:c.1119G>A MANE Select	ENSP00000295754.5:p.Met373Ile
NM_001024847.2:c.1194G>A , LRG_779t1:c.1194G>A	NP_001020018.1:p.Met398Ile
NM_003242.5:c.1119G>A	NP_003233.4:p.Met373Ile
ENST00000295754.9:c.1119G>A	ENSP00000295754.5:p.Met373Ile
ENST00000359013.4:c.1194G>A	ENSP00000351905.4:p.Met398Ile
ENST00000672866.1:n.2715G>A
XM_011534043.1:c.1146G>A	XP_011532345.1:p.Met382Ile
XM_011534043.2:c.1146G>A	XP_011532345.1:p.Met382Ile
XM_011534044.1:c.1071G>A	XP_011532346.1:p.Met357Ile
XM_011534045.1:c.1014G>A	XP_011532347.1:p.Met338Ile
XM_011534045.3:c.1014G>A	XP_011532347.1:p.Met338Ile
XM_017007106.1:c.1014G>A	XP_016862595.1:p.Met338Ile