Canonical Allele Identifier: CA351806800

Gene: TGFBR2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30650316C>A , CM000665.2:g.30650316C>A	GRCh38
NC_000003.11:g.30691808C>A , CM000665.1:g.30691808C>A	GRCh37
NC_000003.10:g.30666812C>A	NCBI36
NG_007490.1:g.48815C>A , LRG_779:g.48815C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.310C>A MANE Select	ENSP00000295754.5:p.Pro104Thr
ENST00000672866.1:n.1906C>A
ENST00000673250.1:n.434C>A
ENST00000295754.9:c.310C>A	ENSP00000295754.5:p.Pro104Thr
ENST00000359013.4:c.385C>A	ENSP00000351905.4:p.Pro129Thr
NM_001024847.2:c.385C>A , LRG_779t1:c.385C>A	NP_001020018.1:p.Pro129Thr
NM_003242.5:c.310C>A	NP_003233.4:p.Pro104Thr
XM_011534043.1:c.337C>A	XP_011532345.1:p.Pro113Thr
XM_011534044.1:c.262C>A	XP_011532346.1:p.Pro88Thr
XM_011534045.1:c.205C>A	XP_011532347.1:p.Pro69Thr
XM_011534043.2:c.337C>A	XP_011532345.1:p.Pro113Thr
XM_011534045.3:c.205C>A	XP_011532347.1:p.Pro69Thr
XM_017007106.1:c.205C>A	XP_016862595.1:p.Pro69Thr
NM_003242.6:c.310C>A MANE Select	NP_003233.4:p.Pro104Thr