Canonical Allele Identifier: CA2702373899
Gene: TGFBR2 HGNC NCBI

Linked Data

dbSNP Id: rs2125436679

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30672349dup , CM000665.2:g.30672349dup GRCh38
NC_000003.11:g.30713841dup , CM000665.1:g.30713841dup GRCh37
NC_000003.10:g.30688845dup NCBI36
NG_007490.1:g.70848dup , LRG_779:g.70848dup

Transcript Alleles

HGVS Amino-acid change
ENST00000295754.10:c.1166dup MANE Select ENSP00000295754.5:p.Asn389LysfsTer9
ENST00000672866.1:n.2762dup
ENST00000295754.9:c.1166dup ENSP00000295754.5:p.Asn389LysfsTer9
ENST00000359013.4:c.1241dup ENSP00000351905.4:p.Asn414LysfsTer9
NM_001024847.2:c.1241dup , LRG_779t1:c.1241dup NP_001020018.1:p.Asn414LysfsTer9
NM_003242.5:c.1166dup NP_003233.4:p.Asn389LysfsTer9
XM_011534043.1:c.1193dup XP_011532345.1:p.Asn398LysfsTer9
XM_011534044.1:c.1118dup XP_011532346.1:p.Asn373LysfsTer9
XM_011534045.1:c.1061dup XP_011532347.1:p.Asn354LysfsTer9
XM_011534043.2:c.1193dup XP_011532345.1:p.Asn398LysfsTer9
XM_011534045.3:c.1061dup XP_011532347.1:p.Asn354LysfsTer9
XM_017007106.1:c.1061dup XP_016862595.1:p.Asn354LysfsTer9
NM_003242.6:c.1166dup MANE Select NP_003233.4:p.Asn389LysfsTer9