Canonical Allele Identifier: CA2664866574
Gene: TGFBR2 HGNC NCBI

Linked Data

gnomAD v4: 3-30606749-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30606749T>C , CM000665.2:g.30606749T>C GRCh38
NC_000003.11:g.30648241T>C , CM000665.1:g.30648241T>C GRCh37
NC_000003.10:g.30623245T>C NCBI36
NG_007490.1:g.5248T>C , LRG_779:g.5248T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000295754.10:c.-135T>C MANE Select ENSP00000295754.5:n.-135T>C
ENST00000295754.9:c.-135T>C ENSP00000295754.5:n.-135T>C
ENST00000359013.4:c.-135T>C ENSP00000351905.4:n.-135T>C
NM_001024847.2:c.-135T>C , LRG_779t1:c.-135T>C NP_001020018.1:n.-135T>C
NM_003242.5:c.-135T>C NP_003233.4:n.-135T>C
XM_011534045.1:c.-12+156T>C XP_011532347.1:n.-12+156T>C
XM_011534045.3:c.-12+156T>C XP_011532347.1:n.-12+156T>C
NM_003242.6:c.-135T>C MANE Select NP_003233.4:n.-135T>C
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