Canonical Allele Identifier: CA020571
Gene: TGFBR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 44661
ClinVar RCV Id: RCV000037740 RCV000248566 RCV000303261 RCV000393230 RCV000587320 RCV002277127
dbSNP Id: rs2229102
ExAC: 3:30713674 A / G
gnomAD v2: 3-30713674-A-G
gnomAD v3: 3-30672182-A-G
gnomAD v4: 3-30672182-A-G
MyVariant Identifiers: chr3:g.30713674A>G (hg19) chr3:g.30672182A>G (hg38)
PubMed: PMID:18781618
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30672182A>G , CM000665.2:g.30672182A>G GRCh38
NC_000003.11:g.30713674A>G , CM000665.1:g.30713674A>G GRCh37
NC_000003.10:g.30688678A>G NCBI36
NG_007490.1:g.70681A>G , LRG_779:g.70681A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000295754.10:c.999A>G MANE Select ENSP00000295754.5:p.Leu333=
ENST00000672866.1:n.2595A>G
ENST00000295754.9:c.999A>G ENSP00000295754.5:p.Leu333=
ENST00000359013.4:c.1074A>G ENSP00000351905.4:p.Leu358=
NM_001024847.2:c.1074A>G , LRG_779t1:c.1074A>G NP_001020018.1:p.Leu358=
NM_003242.5:c.999A>G NP_003233.4:p.Leu333=
XM_011534043.1:c.1026A>G XP_011532345.1:p.Leu342=
XM_011534044.1:c.951A>G XP_011532346.1:p.Leu317=
XM_011534045.1:c.894A>G XP_011532347.1:p.Leu298=
XM_011534043.2:c.1026A>G XP_011532345.1:p.Leu342=
XM_011534045.3:c.894A>G XP_011532347.1:p.Leu298=
XM_017007106.1:c.894A>G XP_016862595.1:p.Leu298=
NM_003242.6:c.999A>G MANE Select NP_003233.4:p.Leu333=
Search 100 bp 5'
Search 100 bp 3'