Canonical Allele Identifier: CA2586965654
Gene: TGFBR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30672207dup , CM000665.2:g.30672207dup GRCh38
NC_000003.11:g.30713699dup , CM000665.1:g.30713699dup GRCh37
NC_000003.10:g.30688703dup NCBI36
NG_007490.1:g.70706dup , LRG_779:g.70706dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000295754.10:c.1024dup MANE Select ENSP00000295754.5:p.Ile342AsnfsTer23
ENST00000672866.1:n.2620dup
ENST00000295754.9:c.1024dup ENSP00000295754.5:p.Ile342AsnfsTer23
ENST00000359013.4:c.1099dup ENSP00000351905.4:p.Ile367AsnfsTer23
NM_001024847.2:c.1099dup , LRG_779t1:c.1099dup NP_001020018.1:p.Ile367AsnfsTer23
NM_003242.5:c.1024dup NP_003233.4:p.Ile342AsnfsTer23
XM_011534043.1:c.1051dup XP_011532345.1:p.Ile351AsnfsTer23
XM_011534044.1:c.976dup XP_011532346.1:p.Ile326AsnfsTer23
XM_011534045.1:c.919dup XP_011532347.1:p.Ile307AsnfsTer23
XM_011534043.2:c.1051dup XP_011532345.1:p.Ile351AsnfsTer23
XM_011534045.3:c.919dup XP_011532347.1:p.Ile307AsnfsTer23
XM_017007106.1:c.919dup XP_016862595.1:p.Ile307AsnfsTer23
NM_003242.6:c.1024dup MANE Select NP_003233.4:p.Ile342AsnfsTer23