Canonical Allele Identifier: CA351809065
Gene: TGFBR2 HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30674196C>A , CM000665.2:g.30674196C>A GRCh38
NC_000003.11:g.30715688C>A , CM000665.1:g.30715688C>A GRCh37
NC_000003.10:g.30690692C>A NCBI36
NG_007490.1:g.72695C>A , LRG_779:g.72695C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000295754.10:c.1346C>A MANE Select ENSP00000295754.5:p.Ser449Tyr
ENST00000672866.1:n.2942C>A
ENST00000673203.1:n.224C>A
ENST00000295754.9:c.1346C>A ENSP00000295754.5:p.Ser449Tyr
ENST00000359013.4:c.1421C>A ENSP00000351905.4:p.Ser474Tyr
NM_001024847.2:c.1421C>A , LRG_779t1:c.1421C>A NP_001020018.1:p.Ser474Tyr
NM_003242.5:c.1346C>A NP_003233.4:p.Ser449Tyr
XM_011534043.1:c.1373C>A XP_011532345.1:p.Ser458Tyr
XM_011534044.1:c.1298C>A XP_011532346.1:p.Ser433Tyr
XM_011534045.1:c.1241C>A XP_011532347.1:p.Ser414Tyr
XM_011534043.2:c.1373C>A XP_011532345.1:p.Ser458Tyr
XM_011534045.3:c.1241C>A XP_011532347.1:p.Ser414Tyr
XM_017007106.1:c.1241C>A XP_016862595.1:p.Ser414Tyr
NM_003242.6:c.1346C>A MANE Select NP_003233.4:p.Ser449Tyr