Canonical Allele Identifier: CA1354873285
Gene: TGFBR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30672422G= , CM000665.2:g.30672422G= GRCh38
NC_000003.11:g.30713914G= , CM000665.1:g.30713914G= GRCh37
NC_000003.10:g.30688918G= NCBI36
NG_007490.1:g.70921G= , LRG_779:g.70921G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000295754.10:c.1239G= MANE Select ENSP00000295754.5:p.Leu413=
ENST00000672866.1:n.2835G=
ENST00000295754.9:c.1239G= ENSP00000295754.5:p.Leu413=
ENST00000359013.4:c.1314G= ENSP00000351905.4:p.Leu438=
NM_001024847.2:c.1314G= , LRG_779t1:c.1314G= NP_001020018.1:p.Leu438=
NM_003242.5:c.1239G= NP_003233.4:p.Leu413=
XM_011534043.1:c.1266G= XP_011532345.1:p.Leu422=
XM_011534044.1:c.1191G= XP_011532346.1:p.Leu397=
XM_011534045.1:c.1134G= XP_011532347.1:p.Leu378=
XM_011534043.2:c.1266G= XP_011532345.1:p.Leu422=
XM_011534045.3:c.1134G= XP_011532347.1:p.Leu378=
XM_017007106.1:c.1134G= XP_016862595.1:p.Leu378=
NM_003242.6:c.1239G= MANE Select NP_003233.4:p.Leu413=