Canonical Allele Identifier: CA433009863
Gene: TGFBR2 HGNC NCBI

Linked Data

gnomAD v4: 3-30606890-C-A
COSMIC: COSM6475792 COSM6475793
MyVariant Identifiers: chr3:g.30648382C>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30606890C>A , CM000665.2:g.30606890C>A GRCh38
NC_000003.11:g.30648382C>A , CM000665.1:g.30648382C>A GRCh37
NC_000003.10:g.30623386C>A NCBI36
NG_007490.1:g.5389C>A , LRG_779:g.5389C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000295754.10:c.7C>A MANE Select ENSP00000295754.5:p.Arg3=
ENST00000295754.9:c.7C>A ENSP00000295754.5:p.Arg3=
ENST00000359013.4:c.7C>A ENSP00000351905.4:p.Arg3=
NM_001024847.2:c.7C>A , LRG_779t1:c.7C>A NP_001020018.1:p.Arg3=
NM_003242.5:c.7C>A NP_003233.4:p.Arg3=
XM_011534045.1:c.-12+297C>A XP_011532347.1:n.-12+297C>A
XM_011534045.3:c.-12+297C>A XP_011532347.1:n.-12+297C>A
NM_003242.6:c.7C>A MANE Select NP_003233.4:p.Arg3=
Search 100 bp 5'
Search 100 bp 3'