Canonical Allele Identifier: CA2577536130
Gene: TGFBR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30623178del , CM000665.2:g.30623178del GRCh38
NC_000003.11:g.30664670del , CM000665.1:g.30664670del GRCh37
NC_000003.10:g.30639674del NCBI36
NG_007490.1:g.21677del , LRG_779:g.21677del

Transcript Alleles

HGVS Amino-acid change
ENST00000295754.10:c.94+16201del MANE Select ENSP00000295754.5:n.94+16201del
ENST00000673250.1:n.144-21del
ENST00000295754.9:c.94+16201del ENSP00000295754.5:n.94+16201del
ENST00000359013.4:c.95-21del ENSP00000351905.4:n.95-21del
NM_001024847.2:c.95-21del , LRG_779t1:c.95-21del NP_001020018.1:n.95-21del
NM_003242.5:c.94+16201del NP_003233.4:n.94+16201del
XM_011534043.1:c.47-21del XP_011532345.1:n.47-21del
XM_011534044.1:c.46+8472del XP_011532346.1:n.46+8472del
XM_011534045.1:c.-12+16585del XP_011532347.1:n.-12+16585del
XM_011534043.2:c.47-21del XP_011532345.1:n.47-21del
XM_011534045.3:c.-12+16585del XP_011532347.1:n.-12+16585del
NM_003242.6:c.94+16201del MANE Select NP_003233.4:n.94+16201del