Canonical Allele Identifier: CA433058636
Gene: TGFBR2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.30713446G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30671954G>A , CM000665.2:g.30671954G>A GRCh38
NC_000003.11:g.30713446G>A , CM000665.1:g.30713446G>A GRCh37
NC_000003.10:g.30688450G>A NCBI36
NG_007490.1:g.70453G>A , LRG_779:g.70453G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000295754.10:c.771G>A MANE Select ENSP00000295754.5:p.Glu257=
ENST00000672866.1:n.2367G>A
ENST00000295754.9:c.771G>A ENSP00000295754.5:p.Glu257=
ENST00000359013.4:c.846G>A ENSP00000351905.4:p.Glu282=
NM_001024847.2:c.846G>A , LRG_779t1:c.846G>A NP_001020018.1:p.Glu282=
NM_003242.5:c.771G>A NP_003233.4:p.Glu257=
XM_011534043.1:c.798G>A XP_011532345.1:p.Glu266=
XM_011534044.1:c.723G>A XP_011532346.1:p.Glu241=
XM_011534045.1:c.666G>A XP_011532347.1:p.Glu222=
XM_011534043.2:c.798G>A XP_011532345.1:p.Glu266=
XM_011534045.3:c.666G>A XP_011532347.1:p.Glu222=
XM_017007106.1:c.666G>A XP_016862595.1:p.Glu222=
NM_003242.6:c.771G>A MANE Select NP_003233.4:p.Glu257=