Canonical Allele Identifier: CA432917614

Gene: TGFBR2

Linked Data

• MyVariant Identifiers: chr3:g.30713839G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30672347G>A , CM000665.2:g.30672347G>A	GRCh38
NC_000003.11:g.30713839G>A , CM000665.1:g.30713839G>A	GRCh37
NC_000003.10:g.30688843G>A	NCBI36
NG_007490.1:g.70846G>A , LRG_779:g.70846G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.1164G>A MANE Select	ENSP00000295754.5:p.Lys388=
ENST00000672866.1:n.2760G>A
ENST00000295754.9:c.1164G>A	ENSP00000295754.5:p.Lys388=
ENST00000359013.4:c.1239G>A	ENSP00000351905.4:p.Lys413=
NM_001024847.2:c.1239G>A , LRG_779t1:c.1239G>A	NP_001020018.1:p.Lys413=
NM_003242.5:c.1164G>A	NP_003233.4:p.Lys388=
XM_011534043.1:c.1191G>A	XP_011532345.1:p.Lys397=
XM_011534044.1:c.1116G>A	XP_011532346.1:p.Lys372=
XM_011534045.1:c.1059G>A	XP_011532347.1:p.Lys353=
XM_011534043.2:c.1191G>A	XP_011532345.1:p.Lys397=
XM_011534045.3:c.1059G>A	XP_011532347.1:p.Lys353=
XM_017007106.1:c.1059G>A	XP_016862595.1:p.Lys353=
NM_003242.6:c.1164G>A MANE Select	NP_003233.4:p.Lys388=