Canonical Allele Identifier: CA1354843228
Gene: TGFBR2 HGNC NCBI

Linked Data

dbSNP Id: rs1697930299

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30606804del , CM000665.2:g.30606804del GRCh38
NC_000003.11:g.30648296del , CM000665.1:g.30648296del GRCh37
NC_000003.10:g.30623300del NCBI36
NG_007490.1:g.5303del , LRG_779:g.5303del

Transcript Alleles

HGVS Amino-acid Change
ENST00000295754.10:c.-80del MANE Select ENSP00000295754.5:n.-80del
ENST00000295754.9:c.-80del ENSP00000295754.5:n.-80del
ENST00000359013.4:c.-80del ENSP00000351905.4:n.-80del
NM_001024847.2:c.-80del , LRG_779t1:c.-80del NP_001020018.1:n.-80del
NM_003242.5:c.-80del NP_003233.4:n.-80del
XM_011534045.1:c.-12+211del XP_011532347.1:n.-12+211del
XM_011534045.3:c.-12+211del XP_011532347.1:n.-12+211del
NM_003242.6:c.-80del MANE Select NP_003233.4:n.-80del