Canonical Allele Identifier: CA2664866600
Gene: TGFBR2 HGNC NCBI

Linked Data

gnomAD v4: 3-30606766-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30606766C>A , CM000665.2:g.30606766C>A GRCh38
NC_000003.11:g.30648258C>A , CM000665.1:g.30648258C>A GRCh37
NC_000003.10:g.30623262C>A NCBI36
NG_007490.1:g.5265C>A , LRG_779:g.5265C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000295754.10:c.-118C>A MANE Select ENSP00000295754.5:n.-118C>A
ENST00000295754.9:c.-118C>A ENSP00000295754.5:n.-118C>A
ENST00000359013.4:c.-118C>A ENSP00000351905.4:n.-118C>A
NM_001024847.2:c.-118C>A , LRG_779t1:c.-118C>A NP_001020018.1:n.-118C>A
NM_003242.5:c.-118C>A NP_003233.4:n.-118C>A
XM_011534045.1:c.-12+173C>A XP_011532347.1:n.-12+173C>A
XM_011534045.3:c.-12+173C>A XP_011532347.1:n.-12+173C>A
NM_003242.6:c.-118C>A MANE Select NP_003233.4:n.-118C>A
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