Canonical Allele Identifier: CA2664866582
Gene: TGFBR2 HGNC NCBI

Linked Data

gnomAD v4: 3-30606753-GC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30606756del , CM000665.2:g.30606756del GRCh38
NC_000003.11:g.30648248del , CM000665.1:g.30648248del GRCh37
NC_000003.10:g.30623252del NCBI36
NG_007490.1:g.5255del , LRG_779:g.5255del

Transcript Alleles

HGVS Amino-acid Change
ENST00000295754.10:c.-128del MANE Select ENSP00000295754.5:n.-128del
ENST00000295754.9:c.-128del ENSP00000295754.5:n.-128del
ENST00000359013.4:c.-128del ENSP00000351905.4:n.-128del
NM_001024847.2:c.-128del , LRG_779t1:c.-128del NP_001020018.1:n.-128del
NM_003242.5:c.-128del NP_003233.4:n.-128del
XM_011534045.1:c.-12+163del XP_011532347.1:n.-12+163del
XM_011534045.3:c.-12+163del XP_011532347.1:n.-12+163del
NM_003242.6:c.-128del MANE Select NP_003233.4:n.-128del
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