Canonical Allele Identifier: CA923726384
Gene: TGFBR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30672215_30672219del , CM000665.2:g.30672215_30672219del GRCh38
NC_000003.11:g.30713707_30713711del , CM000665.1:g.30713707_30713711del GRCh37
NC_000003.10:g.30688711_30688715del NCBI36
NG_007490.1:g.70714_70718del , LRG_779:g.70714_70718del

Transcript Alleles

HGVS Amino-acid Change
ENST00000295754.10:c.1032_1036del MANE Select ENSP00000295754.5:p.Trp344Ter
ENST00000672866.1:n.2628_2632del
ENST00000295754.9:c.1032_1036del ENSP00000295754.5:p.Trp344Ter
ENST00000359013.4:c.1107_1111del ENSP00000351905.4:p.Trp369Ter
NM_001024847.2:c.1107_1111del , LRG_779t1:c.1107_1111del NP_001020018.1:p.Trp369Ter
NM_003242.5:c.1032_1036del NP_003233.4:p.Trp344Ter
XM_011534043.1:c.1059_1063del XP_011532345.1:p.Trp353Ter
XM_011534044.1:c.984_988del XP_011532346.1:p.Trp328Ter
XM_011534045.1:c.927_931del XP_011532347.1:p.Trp309Ter
XM_011534043.2:c.1059_1063del XP_011532345.1:p.Trp353Ter
XM_011534045.3:c.927_931del XP_011532347.1:p.Trp309Ter
XM_017007106.1:c.927_931del XP_016862595.1:p.Trp309Ter
NM_003242.6:c.1032_1036del MANE Select NP_003233.4:p.Trp344Ter