Canonical Allele Identifier: CA020693
Gene: TGFBR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30688482G>T , CM000665.2:g.30688482G>T GRCh38
NC_000003.11:g.30729974G>T , CM000665.1:g.30729974G>T GRCh37
NC_000003.10:g.30704978G>T NCBI36
NG_007490.1:g.86981G>T , LRG_779:g.86981G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000295754.10:c.1495G>T MANE Select ENSP00000295754.5:p.Glu499Ter
ENST00000672050.1:n.379G>T
ENST00000672866.1:n.3091G>T
ENST00000673203.1:n.373G>T
ENST00000295754.9:c.1495G>T ENSP00000295754.5:p.Glu499Ter
ENST00000359013.4:c.1570G>T ENSP00000351905.4:p.Glu524Ter
NM_001024847.2:c.1570G>T , LRG_779t1:c.1570G>T NP_001020018.1:p.Glu524Ter
NM_003242.5:c.1495G>T NP_003233.4:p.Glu499Ter
XM_011534043.1:c.1522G>T XP_011532345.1:p.Glu508Ter
XM_011534044.1:c.1447G>T XP_011532346.1:p.Glu483Ter
XM_011534045.1:c.1390G>T XP_011532347.1:p.Glu464Ter
XM_011534043.2:c.1522G>T XP_011532345.1:p.Glu508Ter
XM_011534045.3:c.1390G>T XP_011532347.1:p.Glu464Ter
XM_017007106.1:c.1390G>T XP_016862595.1:p.Glu464Ter
NM_003242.6:c.1495G>T MANE Select NP_003233.4:p.Glu499Ter