Canonical Allele Identifier: CA050124

Gene: TGFBR2

Linked Data

• ClinVar Variation Id: 645234
• ClinVar RCV Id: RCV000799279 ; RCV003413599
• dbSNP Id: rs773932892
• ExAC: 3:30713582 A / C
• gnomAD v2: 3-30713582-A-C
• gnomAD v4: 3-30672090-A-C
• MyVariant Identifiers: chr3:g.30713582A>C (hg19) ; chr3:g.30672090A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30672090A>C , CM000665.2:g.30672090A>C	GRCh38
NC_000003.11:g.30713582A>C , CM000665.1:g.30713582A>C	GRCh37
NC_000003.10:g.30688586A>C	NCBI36
NG_007490.1:g.70589A>C , LRG_779:g.70589A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.907A>C MANE Select	ENSP00000295754.5:p.Asn303His
ENST00000672866.1:n.2503A>C
ENST00000295754.9:c.907A>C	ENSP00000295754.5:p.Asn303His
ENST00000359013.4:c.982A>C	ENSP00000351905.4:p.Asn328His
NM_001024847.2:c.982A>C , LRG_779t1:c.982A>C	NP_001020018.1:p.Asn328His
NM_003242.5:c.907A>C	NP_003233.4:p.Asn303His
XM_011534043.1:c.934A>C	XP_011532345.1:p.Asn312His
XM_011534044.1:c.859A>C	XP_011532346.1:p.Asn287His
XM_011534045.1:c.802A>C	XP_011532347.1:p.Asn268His
XM_011534043.2:c.934A>C	XP_011532345.1:p.Asn312His
XM_011534045.3:c.802A>C	XP_011532347.1:p.Asn268His
XM_017007106.1:c.802A>C	XP_016862595.1:p.Asn268His
NM_003242.6:c.907A>C MANE Select	NP_003233.4:p.Asn303His