Canonical Allele Identifier: CA351807344
Community Standard Title: NM_003242.6(TGFBR2):c.550A>G (p.Ile184Val)
Gene: TGFBR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30671733A>G , CM000665.2:g.30671733A>G GRCh38
NC_000003.11:g.30713225A>G , CM000665.1:g.30713225A>G GRCh37
NC_000003.10:g.30688229A>G NCBI36
NG_007490.1:g.70232A>G , LRG_779:g.70232A>G

Transcript Alleles

HGVS Amino-acid Change
NM_003242.6:c.550A>G MANE Select NP_003233.4:p.Ile184Val
ENST00000295754.10:c.550A>G MANE Select ENSP00000295754.5:p.Ile184Val
NM_001024847.2:c.625A>G , LRG_779t1:c.625A>G NP_001020018.1:p.Ile209Val
NM_003242.5:c.550A>G NP_003233.4:p.Ile184Val
ENST00000295754.9:c.550A>G ENSP00000295754.5:p.Ile184Val
ENST00000359013.4:c.625A>G ENSP00000351905.4:p.Ile209Val
ENST00000672866.1:n.2146A>G
XM_011534043.1:c.577A>G XP_011532345.1:p.Ile193Val
XM_011534043.2:c.577A>G XP_011532345.1:p.Ile193Val
XM_011534044.1:c.502A>G XP_011532346.1:p.Ile168Val
XM_011534045.1:c.445A>G XP_011532347.1:p.Ile149Val
XM_011534045.3:c.445A>G XP_011532347.1:p.Ile149Val
XM_017007106.1:c.445A>G XP_016862595.1:p.Ile149Val