Canonical Allele Identifier: CA71528929

Gene: TGFBR2

Linked Data

• ClinVar Variation Id: 1745721
• ClinVar RCV Id: RCV002338313 ; RCV004005682
• dbSNP Id: rs1036756776
• gnomAD v4: 3-30672377-T-G
• MyVariant Identifiers: chr3:g.30713869T>G (hg19) ; chr3:g.30672377T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30672377T>G , CM000665.2:g.30672377T>G	GRCh38
NC_000003.11:g.30713869T>G , CM000665.1:g.30713869T>G	GRCh37
NC_000003.10:g.30688873T>G	NCBI36
NG_007490.1:g.70876T>G , LRG_779:g.70876T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.1194T>G MANE Select	ENSP00000295754.5:p.Phe398Leu
ENST00000672866.1:n.2790T>G
ENST00000295754.9:c.1194T>G	ENSP00000295754.5:p.Phe398Leu
ENST00000359013.4:c.1269T>G	ENSP00000351905.4:p.Phe423Leu
NM_001024847.2:c.1269T>G , LRG_779t1:c.1269T>G	NP_001020018.1:p.Phe423Leu
NM_003242.5:c.1194T>G	NP_003233.4:p.Phe398Leu
XM_011534043.1:c.1221T>G	XP_011532345.1:p.Phe407Leu
XM_011534044.1:c.1146T>G	XP_011532346.1:p.Phe382Leu
XM_011534045.1:c.1089T>G	XP_011532347.1:p.Phe363Leu
XM_011534043.2:c.1221T>G	XP_011532345.1:p.Phe407Leu
XM_011534045.3:c.1089T>G	XP_011532347.1:p.Phe363Leu
XM_017007106.1:c.1089T>G	XP_016862595.1:p.Phe363Leu
NM_003242.6:c.1194T>G MANE Select	NP_003233.4:p.Phe398Leu