Canonical Allele Identifier: CA020636
Gene: TGFBR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 36865
ClinVar RCV Id: RCV000030547 RCV000037731 RCV000253560 RCV000370024 RCV000617140 RCV001811224 RCV002277110
dbSNP Id: rs2228047
ExAC: 3:30715608 A / G
gnomAD v2: 3-30715608-A-G
gnomAD v3: 3-30674116-A-G
gnomAD v4: 3-30674116-A-G
MyVariant Identifiers: chr3:g.30715608A>G (hg19) chr3:g.30674116A>G (hg38)
PubMed: PMID:18781618
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30674116A>G , CM000665.2:g.30674116A>G GRCh38
NC_000003.11:g.30715608A>G , CM000665.1:g.30715608A>G GRCh37
NC_000003.10:g.30690612A>G NCBI36
NG_007490.1:g.72615A>G , LRG_779:g.72615A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000295754.10:c.1266A>G MANE Select ENSP00000295754.5:p.Ala422=
ENST00000672866.1:n.2862A>G
ENST00000673203.1:n.144A>G
ENST00000295754.9:c.1266A>G ENSP00000295754.5:p.Ala422=
ENST00000359013.4:c.1341A>G ENSP00000351905.4:p.Ala447=
NM_001024847.2:c.1341A>G , LRG_779t1:c.1341A>G NP_001020018.1:p.Ala447=
NM_003242.5:c.1266A>G NP_003233.4:p.Ala422=
XM_011534043.1:c.1293A>G XP_011532345.1:p.Ala431=
XM_011534044.1:c.1218A>G XP_011532346.1:p.Ala406=
XM_011534045.1:c.1161A>G XP_011532347.1:p.Ala387=
XM_011534043.2:c.1293A>G XP_011532345.1:p.Ala431=
XM_011534045.3:c.1161A>G XP_011532347.1:p.Ala387=
XM_017007106.1:c.1161A>G XP_016862595.1:p.Ala387=
NM_003242.6:c.1266A>G MANE Select NP_003233.4:p.Ala422=
Search 100 bp 5'
Search 100 bp 3'