Canonical Allele Identifier: CA2702373505
Gene: TGFBR2 HGNC NCBI

Linked Data

dbSNP Id: rs2125433937

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30671851_30671852insTGATGACAGATATGGCAACT , CM000665.2:g.30671851_30671852insTGATGACAGATATGGCAACT GRCh38
NC_000003.11:g.30713343_30713344insTGATGACAGATATGGCAACT , CM000665.1:g.30713343_30713344insTGATGACAGATATGGCAACT GRCh37
NC_000003.10:g.30688347_30688348insTGATGACAGATATGGCAACT NCBI36
NG_007490.1:g.70350_70351insTGATGACAGATATGGCAACT , LRG_779:g.70350_70351insTGATGACAGATATGGCAACT

Transcript Alleles

HGVS Amino-acid change
ENST00000295754.10:c.668_669insTGATGACAGATATGGCAACT MANE Select ENSP00000295754.5:p.Arg224AspfsTer?
ENST00000672866.1:n.2264_2265insTGATGACAGATATGGCAACT
ENST00000295754.9:c.668_669insTGATGACAGATATGGCAACT ENSP00000295754.5:p.Arg224AspfsTer?
ENST00000359013.4:c.743_744insTGATGACAGATATGGCAACT ENSP00000351905.4:p.Arg249AspfsTer?
NM_001024847.2:c.743_744insTGATGACAGATATGGCAACT , LRG_779t1:c.743_744insTGATGACAGATATGGCAACT NP_001020018.1:p.Arg249AspfsTer?
NM_003242.5:c.668_669insTGATGACAGATATGGCAACT NP_003233.4:p.Arg224AspfsTer?
XM_011534043.1:c.695_696insTGATGACAGATATGGCAACT XP_011532345.1:p.Arg233AspfsTer?
XM_011534044.1:c.620_621insTGATGACAGATATGGCAACT XP_011532346.1:p.Arg208AspfsTer?
XM_011534045.1:c.563_564insTGATGACAGATATGGCAACT XP_011532347.1:p.Arg189AspfsTer?
XM_011534043.2:c.695_696insTGATGACAGATATGGCAACT XP_011532345.1:p.Arg233AspfsTer?
XM_011534045.3:c.563_564insTGATGACAGATATGGCAACT XP_011532347.1:p.Arg189AspfsTer?
XM_017007106.1:c.563_564insTGATGACAGATATGGCAACT XP_016862595.1:p.Arg189AspfsTer?
NM_003242.6:c.668_669insTGATGACAGATATGGCAACT MANE Select NP_003233.4:p.Arg224AspfsTer?