Canonical Allele Identifier: CA351809564
Community Standard Title: NM_003242.6(TGFBR2):c.1563G>A (p.Trp521Ter)
Gene: TGFBR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30691458G>A , CM000665.2:g.30691458G>A GRCh38
NC_000003.11:g.30732950G>A , CM000665.1:g.30732950G>A GRCh37
NC_000003.10:g.30707954G>A NCBI36
NG_007490.1:g.89957G>A , LRG_779:g.89957G>A

Transcript Alleles

HGVS Amino-acid Change
NM_003242.6:c.1563G>A MANE Select NP_003233.4:p.Trp521Ter
ENST00000295754.10:c.1563G>A MANE Select ENSP00000295754.5:p.Trp521Ter
NM_001024847.2:c.1638G>A , LRG_779t1:c.1638G>A NP_001020018.1:p.Trp546Ter
NM_003242.5:c.1563G>A NP_003233.4:p.Trp521Ter
ENST00000295754.9:c.1563G>A ENSP00000295754.5:p.Trp521Ter
ENST00000359013.4:c.1638G>A ENSP00000351905.4:p.Trp546Ter
ENST00000672050.1:n.447G>A
ENST00000672866.1:n.3159G>A
ENST00000673203.1:n.441G>A
XM_011534043.1:c.1590G>A XP_011532345.1:p.Trp530Ter
XM_011534043.2:c.1590G>A XP_011532345.1:p.Trp530Ter
XM_011534044.1:c.1515G>A XP_011532346.1:p.Trp505Ter
XM_011534045.1:c.1458G>A XP_011532347.1:p.Trp486Ter
XM_011534045.3:c.1458G>A XP_011532347.1:p.Trp486Ter
XM_017007106.1:c.1458G>A XP_016862595.1:p.Trp486Ter