Canonical Allele Identifier: CA351807311
Gene: TGFBR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30671716T>A , CM000665.2:g.30671716T>A GRCh38
NC_000003.11:g.30713208T>A , CM000665.1:g.30713208T>A GRCh37
NC_000003.10:g.30688212T>A NCBI36
NG_007490.1:g.70215T>A , LRG_779:g.70215T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000295754.10:c.533T>A MANE Select ENSP00000295754.5:p.Val178Asp
ENST00000672866.1:n.2129T>A
ENST00000295754.9:c.533T>A ENSP00000295754.5:p.Val178Asp
ENST00000359013.4:c.608T>A ENSP00000351905.4:p.Val203Asp
NM_001024847.2:c.608T>A , LRG_779t1:c.608T>A NP_001020018.1:p.Val203Asp
NM_003242.5:c.533T>A NP_003233.4:p.Val178Asp
XM_011534043.1:c.560T>A XP_011532345.1:p.Val187Asp
XM_011534044.1:c.485T>A XP_011532346.1:p.Val162Asp
XM_011534045.1:c.428T>A XP_011532347.1:p.Val143Asp
XM_011534043.2:c.560T>A XP_011532345.1:p.Val187Asp
XM_011534045.3:c.428T>A XP_011532347.1:p.Val143Asp
XM_017007106.1:c.428T>A XP_016862595.1:p.Val143Asp
NM_003242.6:c.533T>A MANE Select NP_003233.4:p.Val178Asp