Canonical Allele Identifier: CA351807365
Gene: TGFBR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30671742T>C , CM000665.2:g.30671742T>C GRCh38
NC_000003.11:g.30713234T>C , CM000665.1:g.30713234T>C GRCh37
NC_000003.10:g.30688238T>C NCBI36
NG_007490.1:g.70241T>C , LRG_779:g.70241T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000295754.10:c.559T>C MANE Select ENSP00000295754.5:p.Tyr187His
ENST00000672866.1:n.2155T>C
ENST00000295754.9:c.559T>C ENSP00000295754.5:p.Tyr187His
ENST00000359013.4:c.634T>C ENSP00000351905.4:p.Tyr212His
NM_001024847.2:c.634T>C , LRG_779t1:c.634T>C NP_001020018.1:p.Tyr212His
NM_003242.5:c.559T>C NP_003233.4:p.Tyr187His
XM_011534043.1:c.586T>C XP_011532345.1:p.Tyr196His
XM_011534044.1:c.511T>C XP_011532346.1:p.Tyr171His
XM_011534045.1:c.454T>C XP_011532347.1:p.Tyr152His
XM_011534043.2:c.586T>C XP_011532345.1:p.Tyr196His
XM_011534045.3:c.454T>C XP_011532347.1:p.Tyr152His
XM_017007106.1:c.454T>C XP_016862595.1:p.Tyr152His
NM_003242.6:c.559T>C MANE Select NP_003233.4:p.Tyr187His