Canonical Allele Identifier: CA351807803
Community Standard Title: NM_003242.6(TGFBR2):c.757G>A (p.Gly253Ser)
Gene: TGFBR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30671940G>A , CM000665.2:g.30671940G>A GRCh38
NC_000003.11:g.30713432G>A , CM000665.1:g.30713432G>A GRCh37
NC_000003.10:g.30688436G>A NCBI36
NG_007490.1:g.70439G>A , LRG_779:g.70439G>A

Transcript Alleles

HGVS Amino-acid Change
NM_003242.6:c.757G>A MANE Select NP_003233.4:p.Gly253Ser
ENST00000295754.10:c.757G>A MANE Select ENSP00000295754.5:p.Gly253Ser
NM_001024847.2:c.832G>A , LRG_779t1:c.832G>A NP_001020018.1:p.Gly278Ser
NM_003242.5:c.757G>A NP_003233.4:p.Gly253Ser
ENST00000295754.9:c.757G>A ENSP00000295754.5:p.Gly253Ser
ENST00000359013.4:c.832G>A ENSP00000351905.4:p.Gly278Ser
ENST00000672866.1:n.2353G>A
XM_011534043.1:c.784G>A XP_011532345.1:p.Gly262Ser
XM_011534043.2:c.784G>A XP_011532345.1:p.Gly262Ser
XM_011534044.1:c.709G>A XP_011532346.1:p.Gly237Ser
XM_011534045.1:c.652G>A XP_011532347.1:p.Gly218Ser
XM_011534045.3:c.652G>A XP_011532347.1:p.Gly218Ser
XM_017007106.1:c.652G>A XP_016862595.1:p.Gly218Ser