Canonical Allele Identifier: CA045863

Gene: TGFBR2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30644768C>A , CM000665.2:g.30644768C>A	GRCh38
NC_000003.11:g.30686260C>A , CM000665.1:g.30686260C>A	GRCh37
NC_000003.10:g.30661264C>A	NCBI36
NG_007490.1:g.43267C>A , LRG_779:g.43267C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_003242.6:c.116C>A MANE Select	NP_003233.4:p.Thr39Asn
ENST00000295754.10:c.116C>A MANE Select	ENSP00000295754.5:p.Thr39Asn
NM_001024847.2:c.191C>A , LRG_779t1:c.191C>A	NP_001020018.1:p.Thr64Asn
NM_003242.5:c.116C>A	NP_003233.4:p.Thr39Asn
ENST00000295754.9:c.116C>A	ENSP00000295754.5:p.Thr39Asn
ENST00000359013.4:c.191C>A	ENSP00000351905.4:p.Thr64Asn
ENST00000672866.1:n.1712C>A
ENST00000673250.1:n.240C>A
XM_011534043.1:c.143C>A	XP_011532345.1:p.Thr48Asn
XM_011534043.2:c.143C>A	XP_011532345.1:p.Thr48Asn
XM_011534044.1:c.68C>A	XP_011532346.1:p.Thr23Asn
XM_011534045.1:c.11C>A	XP_011532347.1:p.Thr4Asn
XM_011534045.3:c.11C>A	XP_011532347.1:p.Thr4Asn
XM_017007106.1:c.11C>A	XP_016862595.1:p.Thr4Asn