Canonical Allele Identifier: CA020772

Gene: TGFBR2

Linked Data

• ClinVar Variation Id: 177927
• ClinVar RCV Id: RCV000154587 ; RCV000777996 ; RCV002225455 ; RCV003998253
• dbSNP Id: rs727504406
• ExAC: 3:30713139 C / T
• gnomAD v2: 3-30713139-C-T
• gnomAD v3: 3-30671647-C-T
• gnomAD v4: 3-30671647-C-T
• MyVariant Identifiers: chr3:g.30713139C>T (hg19) ; chr3:g.30671647C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30671647C>T , CM000665.2:g.30671647C>T	GRCh38
NC_000003.11:g.30713139C>T , CM000665.1:g.30713139C>T	GRCh37
NC_000003.10:g.30688143C>T	NCBI36
NG_007490.1:g.70146C>T , LRG_779:g.70146C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.464C>T MANE Select	ENSP00000295754.5:p.Thr155Ile
ENST00000672866.1:n.2060C>T
ENST00000295754.9:c.464C>T	ENSP00000295754.5:p.Thr155Ile
ENST00000359013.4:c.539C>T	ENSP00000351905.4:p.Thr180Ile
NM_001024847.2:c.539C>T , LRG_779t1:c.539C>T	NP_001020018.1:p.Thr180Ile
NM_003242.5:c.464C>T	NP_003233.4:p.Thr155Ile
XM_011534043.1:c.491C>T	XP_011532345.1:p.Thr164Ile
XM_011534044.1:c.416C>T	XP_011532346.1:p.Thr139Ile
XM_011534045.1:c.359C>T	XP_011532347.1:p.Thr120Ile
XM_011534043.2:c.491C>T	XP_011532345.1:p.Thr164Ile
XM_011534045.3:c.359C>T	XP_011532347.1:p.Thr120Ile
XM_017007106.1:c.359C>T	XP_016862595.1:p.Thr120Ile
NM_003242.6:c.464C>T MANE Select	NP_003233.4:p.Thr155Ile