Canonical Allele Identifier: CA1354881667
Gene: TGFBR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30691444T= , CM000665.2:g.30691444T= GRCh38
NC_000003.11:g.30732936T= , CM000665.1:g.30732936T= GRCh37
NC_000003.10:g.30707940T= NCBI36
NG_007490.1:g.89943T= , LRG_779:g.89943T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000295754.10:c.1549T= MANE Select ENSP00000295754.5:p.Leu517=
ENST00000672050.1:n.433T=
ENST00000672866.1:n.3145T=
ENST00000673203.1:n.427T=
ENST00000295754.9:c.1549T= ENSP00000295754.5:p.Leu517=
ENST00000359013.4:c.1624T= ENSP00000351905.4:p.Leu542=
NM_001024847.2:c.1624T= , LRG_779t1:c.1624T= NP_001020018.1:p.Leu542=
NM_003242.5:c.1549T= NP_003233.4:p.Leu517=
XM_011534043.1:c.1576T= XP_011532345.1:p.Leu526=
XM_011534044.1:c.1501T= XP_011532346.1:p.Leu501=
XM_011534045.1:c.1444T= XP_011532347.1:p.Leu482=
XM_011534043.2:c.1576T= XP_011532345.1:p.Leu526=
XM_011534045.3:c.1444T= XP_011532347.1:p.Leu482=
XM_017007106.1:c.1444T= XP_016862595.1:p.Leu482=
NM_003242.6:c.1549T= MANE Select NP_003233.4:p.Leu517=