Canonical Allele Identifier: CA320296
Community Standard Title: NM_003242.6(TGFBR2):c.412T>G (p.Cys138Gly)
Gene: TGFBR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30650418T>G , CM000665.2:g.30650418T>G GRCh38
NC_000003.11:g.30691910T>G , CM000665.1:g.30691910T>G GRCh37
NC_000003.10:g.30666914T>G NCBI36
NG_007490.1:g.48917T>G , LRG_779:g.48917T>G

Transcript Alleles

HGVS Amino-acid Change
NM_003242.6:c.412T>G MANE Select NP_003233.4:p.Cys138Gly
ENST00000295754.10:c.412T>G MANE Select ENSP00000295754.5:p.Cys138Gly
NM_001024847.2:c.487T>G , LRG_779t1:c.487T>G NP_001020018.1:p.Cys163Gly
NM_003242.5:c.412T>G NP_003233.4:p.Cys138Gly
ENST00000295754.9:c.412T>G ENSP00000295754.5:p.Cys138Gly
ENST00000359013.4:c.487T>G ENSP00000351905.4:p.Cys163Gly
ENST00000672866.1:n.2008T>G
ENST00000673250.1:n.536T>G
XM_011534043.1:c.439T>G XP_011532345.1:p.Cys147Gly
XM_011534043.2:c.439T>G XP_011532345.1:p.Cys147Gly
XM_011534044.1:c.364T>G XP_011532346.1:p.Cys122Gly
XM_011534045.1:c.307T>G XP_011532347.1:p.Cys103Gly
XM_011534045.3:c.307T>G XP_011532347.1:p.Cys103Gly
XM_017007106.1:c.307T>G XP_016862595.1:p.Cys103Gly