Canonical Allele Identifier: CA1354881699
Community Standard Title: NM_003242.6(TGFBR2):c.1609C= (p.Arg537=)
Gene: TGFBR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30691504C= , CM000665.2:g.30691504C= GRCh38
NC_000003.11:g.30732996C= , CM000665.1:g.30732996C= GRCh37
NC_000003.10:g.30708000C= NCBI36
NG_007490.1:g.90003C= , LRG_779:g.90003C=

Transcript Alleles

HGVS Amino-acid Change
NM_003242.6:c.1609C= MANE Select NP_003233.4:p.Arg537=
ENST00000295754.10:c.1609C= MANE Select ENSP00000295754.5:p.Arg537=
NM_001024847.2:c.1684C= , LRG_779t1:c.1684C= NP_001020018.1:p.Arg562=
NM_003242.5:c.1609C= NP_003233.4:p.Arg537=
ENST00000295754.9:c.1609C= ENSP00000295754.5:p.Arg537=
ENST00000359013.4:c.1684C= ENSP00000351905.4:p.Arg562=
ENST00000672050.1:n.493C=
ENST00000672866.1:n.3205C=
ENST00000673203.1:n.487C=
XM_011534043.1:c.1636C= XP_011532345.1:p.Arg546=
XM_011534043.2:c.1636C= XP_011532345.1:p.Arg546=
XM_011534044.1:c.1561C= XP_011532346.1:p.Arg521=
XM_011534045.1:c.1504C= XP_011532347.1:p.Arg502=
XM_011534045.3:c.1504C= XP_011532347.1:p.Arg502=
XM_017007106.1:c.1504C= XP_016862595.1:p.Arg502=