Canonical Allele Identifier: CA2664866445
Gene: TGFBR2 HGNC NCBI

Linked Data

gnomAD v4: 3-30606637-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30606637C>T , CM000665.2:g.30606637C>T GRCh38
NC_000003.11:g.30648129C>T , CM000665.1:g.30648129C>T GRCh37
NC_000003.10:g.30623133C>T NCBI36
NG_007490.1:g.5136C>T , LRG_779:g.5136C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000295754.10:c.-247C>T MANE Select ENSP00000295754.5:n.-247C>T
ENST00000295754.9:c.-247C>T ENSP00000295754.5:n.-247C>T
ENST00000359013.4:c.-247C>T ENSP00000351905.4:n.-247C>T
NM_001024847.2:c.-247C>T , LRG_779t1:c.-247C>T NP_001020018.1:n.-247C>T
NM_003242.5:c.-247C>T NP_003233.4:n.-247C>T
XM_011534045.1:c.-12+44C>T XP_011532347.1:n.-12+44C>T
XM_011534045.3:c.-12+44C>T XP_011532347.1:n.-12+44C>T
NM_003242.6:c.-247C>T MANE Select NP_003233.4:n.-247C>T
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