Canonical Allele Identifier: CA020780
Gene: TGFBR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30671800C>T , CM000665.2:g.30671800C>T GRCh38
NC_000003.11:g.30713292C>T , CM000665.1:g.30713292C>T GRCh37
NC_000003.10:g.30688296C>T NCBI36
NG_007490.1:g.70299C>T , LRG_779:g.70299C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000295754.10:c.617C>T MANE Select ENSP00000295754.5:p.Thr206Met
ENST00000672866.1:n.2213C>T
ENST00000295754.9:c.617C>T ENSP00000295754.5:p.Thr206Met
ENST00000359013.4:c.692C>T ENSP00000351905.4:p.Thr231Met
NM_001024847.2:c.692C>T , LRG_779t1:c.692C>T NP_001020018.1:p.Thr231Met
NM_003242.5:c.617C>T NP_003233.4:p.Thr206Met
XM_011534043.1:c.644C>T XP_011532345.1:p.Thr215Met
XM_011534044.1:c.569C>T XP_011532346.1:p.Thr190Met
XM_011534045.1:c.512C>T XP_011532347.1:p.Thr171Met
XM_011534043.2:c.644C>T XP_011532345.1:p.Thr215Met
XM_011534045.3:c.512C>T XP_011532347.1:p.Thr171Met
XM_017007106.1:c.512C>T XP_016862595.1:p.Thr171Met
NM_003242.6:c.617C>T MANE Select NP_003233.4:p.Thr206Met