Canonical Allele Identifier: CA351808840

Gene: TGFBR2

Linked Data

• ClinVar Variation Id: 2774581
• ClinVar RCV Id: RCV003528716 ; RCV004011574
• dbSNP Id: rs2125437132
• MyVariant Identifiers: chr3:g.30713922G>C (hg19) ; chr3:g.30672430G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30672430G>C , CM000665.2:g.30672430G>C	GRCh38
NC_000003.11:g.30713922G>C , CM000665.1:g.30713922G>C	GRCh37
NC_000003.10:g.30688926G>C	NCBI36
NG_007490.1:g.70929G>C , LRG_779:g.70929G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.1247G>C MANE Select	ENSP00000295754.5:p.Ser416Thr
ENST00000672866.1:n.2843G>C
ENST00000295754.9:c.1247G>C	ENSP00000295754.5:p.Ser416Thr
ENST00000359013.4:c.1322G>C	ENSP00000351905.4:p.Ser441Thr
NM_001024847.2:c.1322G>C , LRG_779t1:c.1322G>C	NP_001020018.1:p.Ser441Thr
NM_003242.5:c.1247G>C	NP_003233.4:p.Ser416Thr
XM_011534043.1:c.1274G>C	XP_011532345.1:p.Ser425Thr
XM_011534044.1:c.1199G>C	XP_011532346.1:p.Ser400Thr
XM_011534045.1:c.1142G>C	XP_011532347.1:p.Ser381Thr
XM_011534043.2:c.1274G>C	XP_011532345.1:p.Ser425Thr
XM_011534045.3:c.1142G>C	XP_011532347.1:p.Ser381Thr
XM_017007106.1:c.1142G>C	XP_016862595.1:p.Ser381Thr
NM_003242.6:c.1247G>C MANE Select	NP_003233.4:p.Ser416Thr