Canonical Allele Identifier: CA047882
Community Standard Title: NM_003242.6(TGFBR2):c.277G>A (p.Glu93Lys)
Gene: TGFBR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30650283G>A , CM000665.2:g.30650283G>A GRCh38
NC_000003.11:g.30691775G>A , CM000665.1:g.30691775G>A GRCh37
NC_000003.10:g.30666779G>A NCBI36
NG_007490.1:g.48782G>A , LRG_779:g.48782G>A

Transcript Alleles

HGVS Amino-acid Change
NM_003242.6:c.277G>A MANE Select NP_003233.4:p.Glu93Lys
ENST00000295754.10:c.277G>A MANE Select ENSP00000295754.5:p.Glu93Lys
NM_001024847.2:c.352G>A , LRG_779t1:c.352G>A NP_001020018.1:p.Glu118Lys
NM_003242.5:c.277G>A NP_003233.4:p.Glu93Lys
ENST00000295754.9:c.277G>A ENSP00000295754.5:p.Glu93Lys
ENST00000359013.4:c.352G>A ENSP00000351905.4:p.Glu118Lys
ENST00000672866.1:n.1873G>A
ENST00000673250.1:n.401G>A
XM_011534043.1:c.304G>A XP_011532345.1:p.Glu102Lys
XM_011534043.2:c.304G>A XP_011532345.1:p.Glu102Lys
XM_011534044.1:c.229G>A XP_011532346.1:p.Glu77Lys
XM_011534045.1:c.172G>A XP_011532347.1:p.Glu58Lys
XM_011534045.3:c.172G>A XP_011532347.1:p.Glu58Lys
XM_017007106.1:c.172G>A XP_016862595.1:p.Glu58Lys