Canonical Allele Identifier: CA351809131
Gene: TGFBR2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30674225T>C , CM000665.2:g.30674225T>C GRCh38
NC_000003.11:g.30715717T>C , CM000665.1:g.30715717T>C GRCh37
NC_000003.10:g.30690721T>C NCBI36
NG_007490.1:g.72724T>C , LRG_779:g.72724T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000295754.10:c.1375T>C MANE Select ENSP00000295754.5:p.Ser459Pro
ENST00000672866.1:n.2971T>C
ENST00000673203.1:n.253T>C
ENST00000295754.9:c.1375T>C ENSP00000295754.5:p.Ser459Pro
ENST00000359013.4:c.1450T>C ENSP00000351905.4:p.Ser484Pro
NM_001024847.2:c.1450T>C , LRG_779t1:c.1450T>C NP_001020018.1:p.Ser484Pro
NM_003242.5:c.1375T>C NP_003233.4:p.Ser459Pro
XM_011534043.1:c.1402T>C XP_011532345.1:p.Ser468Pro
XM_011534044.1:c.1327T>C XP_011532346.1:p.Ser443Pro
XM_011534045.1:c.1270T>C XP_011532347.1:p.Ser424Pro
XM_011534043.2:c.1402T>C XP_011532345.1:p.Ser468Pro
XM_011534045.3:c.1270T>C XP_011532347.1:p.Ser424Pro
XM_017007106.1:c.1270T>C XP_016862595.1:p.Ser424Pro
NM_003242.6:c.1375T>C MANE Select NP_003233.4:p.Ser459Pro