Canonical Allele Identifier: CA2664866693
Gene: TGFBR2 HGNC NCBI

Linked Data

gnomAD v4: 3-30606828-GA-G
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30606830del , CM000665.2:g.30606830del GRCh38
NC_000003.11:g.30648322del , CM000665.1:g.30648322del GRCh37
NC_000003.10:g.30623326del NCBI36
NG_007490.1:g.5329del , LRG_779:g.5329del

Transcript Alleles

HGVS Amino-acid Change
ENST00000295754.10:c.-54del MANE Select ENSP00000295754.5:n.-54del
ENST00000295754.9:c.-54del ENSP00000295754.5:n.-54del
ENST00000359013.4:c.-54del ENSP00000351905.4:n.-54del
NM_001024847.2:c.-54del , LRG_779t1:c.-54del NP_001020018.1:n.-54del
NM_003242.5:c.-54del NP_003233.4:n.-54del
XM_011534045.1:c.-12+237del XP_011532347.1:n.-12+237del
XM_011534045.3:c.-12+237del XP_011532347.1:n.-12+237del
NM_003242.6:c.-54del MANE Select NP_003233.4:n.-54del
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