Canonical Allele Identifier: CA432917691

Gene: TGFBR2

Linked Data

• ClinVar Variation Id: 929002
• ClinVar RCV Id: RCV001193760 ; RCV002411729
• dbSNP Id: rs1397322686
• gnomAD v2: 3-30715605-T-G
• gnomAD v3: 3-30674113-T-G
• gnomAD v4: 3-30674113-T-G
• MyVariant Identifiers: chr3:g.30715605T>G (hg19) ; chr3:g.30674113T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30674113T>G , CM000665.2:g.30674113T>G	GRCh38
NC_000003.11:g.30715605T>G , CM000665.1:g.30715605T>G	GRCh37
NC_000003.10:g.30690609T>G	NCBI36
NG_007490.1:g.72612T>G , LRG_779:g.72612T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.1263T>G MANE Select	ENSP00000295754.5:p.Thr421=
ENST00000672866.1:n.2859T>G
ENST00000673203.1:n.141T>G
ENST00000295754.9:c.1263T>G	ENSP00000295754.5:p.Thr421=
ENST00000359013.4:c.1338T>G	ENSP00000351905.4:p.Thr446=
NM_001024847.2:c.1338T>G , LRG_779t1:c.1338T>G	NP_001020018.1:p.Thr446=
NM_003242.5:c.1263T>G	NP_003233.4:p.Thr421=
XM_011534043.1:c.1290T>G	XP_011532345.1:p.Thr430=
XM_011534044.1:c.1215T>G	XP_011532346.1:p.Thr405=
XM_011534045.1:c.1158T>G	XP_011532347.1:p.Thr386=
XM_011534043.2:c.1290T>G	XP_011532345.1:p.Thr430=
XM_011534045.3:c.1158T>G	XP_011532347.1:p.Thr386=
XM_017007106.1:c.1158T>G	XP_016862595.1:p.Thr386=
NM_003242.6:c.1263T>G MANE Select	NP_003233.4:p.Thr421=