Canonical Allele Identifier: CA1354873193
Gene: TGFBR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30672231C= , CM000665.2:g.30672231C= GRCh38
NC_000003.11:g.30713723C= , CM000665.1:g.30713723C= GRCh37
NC_000003.10:g.30688727C= NCBI36
NG_007490.1:g.70730C= , LRG_779:g.70730C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000295754.10:c.1048C= MANE Select ENSP00000295754.5:p.Leu350=
ENST00000672866.1:n.2644C=
ENST00000295754.9:c.1048C= ENSP00000295754.5:p.Leu350=
ENST00000359013.4:c.1123C= ENSP00000351905.4:p.Leu375=
NM_001024847.2:c.1123C= , LRG_779t1:c.1123C= NP_001020018.1:p.Leu375=
NM_003242.5:c.1048C= NP_003233.4:p.Leu350=
XM_011534043.1:c.1075C= XP_011532345.1:p.Leu359=
XM_011534044.1:c.1000C= XP_011532346.1:p.Leu334=
XM_011534045.1:c.943C= XP_011532347.1:p.Leu315=
XM_011534043.2:c.1075C= XP_011532345.1:p.Leu359=
XM_011534045.3:c.943C= XP_011532347.1:p.Leu315=
XM_017007106.1:c.943C= XP_016862595.1:p.Leu315=
NM_003242.6:c.1048C= MANE Select NP_003233.4:p.Leu350=