Canonical Allele Identifier: CA045456
Gene: TGFBR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 344661
dbSNP Id: rs144701411
gnomAD v2: 3-30713717-C-T
gnomAD v3: 3-30672225-C-T
gnomAD v4: 3-30672225-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30672225C>T , CM000665.2:g.30672225C>T GRCh38
NC_000003.11:g.30713717C>T , CM000665.1:g.30713717C>T GRCh37
NC_000003.10:g.30688721C>T NCBI36
NG_007490.1:g.70724C>T , LRG_779:g.70724C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000295754.10:c.1042C>T MANE Select ENSP00000295754.5:p.Arg348Cys
ENST00000672866.1:n.2638C>T
ENST00000295754.9:c.1042C>T ENSP00000295754.5:p.Arg348Cys
ENST00000359013.4:c.1117C>T ENSP00000351905.4:p.Arg373Cys
NM_001024847.2:c.1117C>T , LRG_779t1:c.1117C>T NP_001020018.1:p.Arg373Cys
NM_003242.5:c.1042C>T NP_003233.4:p.Arg348Cys
XM_011534043.1:c.1069C>T XP_011532345.1:p.Arg357Cys
XM_011534044.1:c.994C>T XP_011532346.1:p.Arg332Cys
XM_011534045.1:c.937C>T XP_011532347.1:p.Arg313Cys
XM_011534043.2:c.1069C>T XP_011532345.1:p.Arg357Cys
XM_011534045.3:c.937C>T XP_011532347.1:p.Arg313Cys
XM_017007106.1:c.937C>T XP_016862595.1:p.Arg313Cys
NM_003242.6:c.1042C>T MANE Select NP_003233.4:p.Arg348Cys