Canonical Allele Identifier: CA050696

Gene: TGFBR2

Linked Data

• ClinVar Variation Id: 252506
• ClinVar RCV Id: RCV000238729 ; RCV001296215 ; RCV001547011 ; RCV002487107 ; RCV003998942
• dbSNP Id: rs781018006
• ExAC: 3:30713642 C / G
• gnomAD v2: 3-30713642-C-G
• gnomAD v4: 3-30672150-C-G
• MyVariant Identifiers: chr3:g.30713642C>G (hg19) ; chr3:g.30672150C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30672150C>G , CM000665.2:g.30672150C>G	GRCh38
NC_000003.11:g.30713642C>G , CM000665.1:g.30713642C>G	GRCh37
NC_000003.10:g.30688646C>G	NCBI36
NG_007490.1:g.70649C>G , LRG_779:g.70649C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.967C>G MANE Select	ENSP00000295754.5:p.Leu323Val
ENST00000672866.1:n.2563C>G
ENST00000295754.9:c.967C>G	ENSP00000295754.5:p.Leu323Val
ENST00000359013.4:c.1042C>G	ENSP00000351905.4:p.Leu348Val
NM_001024847.2:c.1042C>G , LRG_779t1:c.1042C>G	NP_001020018.1:p.Leu348Val
NM_003242.5:c.967C>G	NP_003233.4:p.Leu323Val
XM_011534043.1:c.994C>G	XP_011532345.1:p.Leu332Val
XM_011534044.1:c.919C>G	XP_011532346.1:p.Leu307Val
XM_011534045.1:c.862C>G	XP_011532347.1:p.Leu288Val
XM_011534043.2:c.994C>G	XP_011532345.1:p.Leu332Val
XM_011534045.3:c.862C>G	XP_011532347.1:p.Leu288Val
XM_017007106.1:c.862C>G	XP_016862595.1:p.Leu288Val
NM_003242.6:c.967C>G MANE Select	NP_003233.4:p.Leu323Val