Canonical Allele Identifier: CA1354873058
Gene: TGFBR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30671931G= , CM000665.2:g.30671931G= GRCh38
NC_000003.11:g.30713423G= , CM000665.1:g.30713423G= GRCh37
NC_000003.10:g.30688427G= NCBI36
NG_007490.1:g.70430G= , LRG_779:g.70430G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000295754.10:c.748G= MANE Select ENSP00000295754.5:p.Val250=
ENST00000672866.1:n.2344G=
ENST00000295754.9:c.748G= ENSP00000295754.5:p.Val250=
ENST00000359013.4:c.823G= ENSP00000351905.4:p.Val275=
NM_001024847.2:c.823G= , LRG_779t1:c.823G= NP_001020018.1:p.Val275=
NM_003242.5:c.748G= NP_003233.4:p.Val250=
XM_011534043.1:c.775G= XP_011532345.1:p.Val259=
XM_011534044.1:c.700G= XP_011532346.1:p.Val234=
XM_011534045.1:c.643G= XP_011532347.1:p.Val215=
XM_011534043.2:c.775G= XP_011532345.1:p.Val259=
XM_011534045.3:c.643G= XP_011532347.1:p.Val215=
XM_017007106.1:c.643G= XP_016862595.1:p.Val215=
NM_003242.6:c.748G= MANE Select NP_003233.4:p.Val250=