Canonical Allele Identifier: CA1354848187
Gene: TGFBR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30617082_30617089delinsGAAAAAAA , CM000665.2:g.30617082_30617089delinsGAAAAAAA GRCh38
NC_000003.11:g.30658574_30658581delinsGAAAAAAA , CM000665.1:g.30658574_30658581delinsGAAAAAAA GRCh37
NC_000003.10:g.30633578_30633585delinsGAAAAAAA NCBI36
NG_007490.1:g.15581_15588delinsGAAAAAAA , LRG_779:g.15581_15588delinsGAAAAAAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000295754.10:c.94+10105_94+10112delinsGAAAAAAA MANE Select ENSP00000295754.5:n.94+10105_94+10112delinsGAAAAAAA
ENST00000673250.1:n.143+2376_143+2383delinsGAAAAAAA
ENST00000295754.9:c.94+10105_94+10112delinsGAAAAAAA ENSP00000295754.5:n.94+10105_94+10112delinsGAAAAAAA
ENST00000359013.4:c.95-6117_95-6110delinsGAAAAAAA ENSP00000351905.4:n.95-6117_95-6110delinsGAAAAAAA
NM_001024847.2:c.95-6117_95-6110delinsGAAAAAAA , LRG_779t1:c.95-6117_95-6110delinsGAAAAAAA NP_001020018.1:n.95-6117_95-6110delinsGAAAAAAA
NM_003242.5:c.94+10105_94+10112delinsGAAAAAAA NP_003233.4:n.94+10105_94+10112delinsGAAAAAAA
XM_011534043.1:c.46+2376_46+2383delinsGAAAAAAA XP_011532345.1:n.46+2376_46+2383delinsGAAAAAAA
XM_011534044.1:c.46+2376_46+2383delinsGAAAAAAA XP_011532346.1:n.46+2376_46+2383delinsGAAAAAAA
XM_011534045.1:c.-12+10489_-12+10496delinsGAAAAAAA XP_011532347.1:n.-12+10489_-12+10496delinsGAAAAAAA
XM_011534043.2:c.46+2376_46+2383delinsGAAAAAAA XP_011532345.1:n.46+2376_46+2383delinsGAAAAAAA
XM_011534045.3:c.-12+10489_-12+10496delinsGAAAAAAA XP_011532347.1:n.-12+10489_-12+10496delinsGAAAAAAA
NM_003242.6:c.94+10105_94+10112delinsGAAAAAAA MANE Select NP_003233.4:n.94+10105_94+10112delinsGAAAAAAA