Canonical Allele Identifier: CA050194
Community Standard Title: NM_003242.6(TGFBR2):c.927G>A (p.Thr309=)
Gene: TGFBR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30672110G>A , CM000665.2:g.30672110G>A GRCh38
NC_000003.11:g.30713602G>A , CM000665.1:g.30713602G>A GRCh37
NC_000003.10:g.30688606G>A NCBI36
NG_007490.1:g.70609G>A , LRG_779:g.70609G>A

Transcript Alleles

HGVS Amino-acid Change
NM_003242.6:c.927G>A MANE Select NP_003233.4:p.Thr309=
ENST00000295754.10:c.927G>A MANE Select ENSP00000295754.5:p.Thr309=
NM_001024847.2:c.1002G>A , LRG_779t1:c.1002G>A NP_001020018.1:p.Thr334=
NM_003242.5:c.927G>A NP_003233.4:p.Thr309=
ENST00000295754.9:c.927G>A ENSP00000295754.5:p.Thr309=
ENST00000359013.4:c.1002G>A ENSP00000351905.4:p.Thr334=
ENST00000672866.1:n.2523G>A
XM_011534043.1:c.954G>A XP_011532345.1:p.Thr318=
XM_011534043.2:c.954G>A XP_011532345.1:p.Thr318=
XM_011534044.1:c.879G>A XP_011532346.1:p.Thr293=
XM_011534045.1:c.822G>A XP_011532347.1:p.Thr274=
XM_011534045.3:c.822G>A XP_011532347.1:p.Thr274=
XM_017007106.1:c.822G>A XP_016862595.1:p.Thr274=