Canonical Allele Identifier: CA432917322
Community Standard Title: NM_003242.6(TGFBR2):c.168G>A (p.Val56=)
Gene: TGFBR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30644820G>A , CM000665.2:g.30644820G>A GRCh38
NC_000003.11:g.30686312G>A , CM000665.1:g.30686312G>A GRCh37
NC_000003.10:g.30661316G>A NCBI36
NG_007490.1:g.43319G>A , LRG_779:g.43319G>A

Transcript Alleles

HGVS Amino-acid Change
NM_003242.6:c.168G>A MANE Select NP_003233.4:p.Val56=
ENST00000295754.10:c.168G>A MANE Select ENSP00000295754.5:p.Val56=
NM_001024847.2:c.243G>A , LRG_779t1:c.243G>A NP_001020018.1:p.Val81=
NM_003242.5:c.168G>A NP_003233.4:p.Val56=
ENST00000295754.9:c.168G>A ENSP00000295754.5:p.Val56=
ENST00000359013.4:c.243G>A ENSP00000351905.4:p.Val81=
ENST00000672866.1:n.1764G>A
ENST00000673250.1:n.292G>A
XM_011534043.1:c.195G>A XP_011532345.1:p.Val65=
XM_011534043.2:c.195G>A XP_011532345.1:p.Val65=
XM_011534044.1:c.120G>A XP_011532346.1:p.Val40=
XM_011534045.1:c.63G>A XP_011532347.1:p.Val21=
XM_011534045.3:c.63G>A XP_011532347.1:p.Val21=
XM_017007106.1:c.63G>A XP_016862595.1:p.Val21=