Canonical Allele Identifier: CA11592427
Community Standard Title: NM_003242.6(TGFBR2):c.263+240T>C
Gene: TGFBR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30645155T>C , CM000665.2:g.30645155T>C GRCh38
NC_000003.11:g.30686647T>C , CM000665.1:g.30686647T>C GRCh37
NC_000003.10:g.30661651T>C NCBI36
NG_007490.1:g.43654T>C , LRG_779:g.43654T>C

Transcript Alleles

HGVS Amino-acid Change
NM_003242.6:c.263+240T>C MANE Select NP_003233.4:n.263+240T>C
ENST00000295754.10:c.263+240T>C MANE Select ENSP00000295754.5:n.263+240T>C
NM_001024847.2:c.338+240T>C , LRG_779t1:c.338+240T>C NP_001020018.1:n.338+240T>C
NM_003242.5:c.263+240T>C NP_003233.4:n.263+240T>C
ENST00000295754.9:c.263+240T>C ENSP00000295754.5:n.263+240T>C
ENST00000359013.4:c.338+240T>C ENSP00000351905.4:n.338+240T>C
ENST00000672866.1:n.1859+240T>C
ENST00000673250.1:n.387+240T>C
XM_011534043.1:c.290+240T>C XP_011532345.1:n.290+240T>C
XM_011534043.2:c.290+240T>C XP_011532345.1:n.290+240T>C
XM_011534044.1:c.215+240T>C XP_011532346.1:n.215+240T>C
XM_011534045.1:c.158+240T>C XP_011532347.1:n.158+240T>C
XM_011534045.3:c.158+240T>C XP_011532347.1:n.158+240T>C
XM_017007106.1:c.158+240T>C XP_016862595.1:n.158+240T>C