Canonical Allele Identifier: CA433058252

Gene: TGFBR2

Linked Data

• ClinVar Variation Id: 1172215
• ClinVar RCV Id: RCV001525894
• dbSNP Id: rs2125433850
• MyVariant Identifiers: chr3:g.30713323T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30671831T>C , CM000665.2:g.30671831T>C	GRCh38
NC_000003.11:g.30713323T>C , CM000665.1:g.30713323T>C	GRCh37
NC_000003.10:g.30688327T>C	NCBI36
NG_007490.1:g.70330T>C , LRG_779:g.70330T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.648T>C MANE Select	ENSP00000295754.5:p.Cys216=
ENST00000672866.1:n.2244T>C
ENST00000295754.9:c.648T>C	ENSP00000295754.5:p.Cys216=
ENST00000359013.4:c.723T>C	ENSP00000351905.4:p.Cys241=
NM_001024847.2:c.723T>C , LRG_779t1:c.723T>C	NP_001020018.1:p.Cys241=
NM_003242.5:c.648T>C	NP_003233.4:p.Cys216=
XM_011534043.1:c.675T>C	XP_011532345.1:p.Cys225=
XM_011534044.1:c.600T>C	XP_011532346.1:p.Cys200=
XM_011534045.1:c.543T>C	XP_011532347.1:p.Cys181=
XM_011534043.2:c.675T>C	XP_011532345.1:p.Cys225=
XM_011534045.3:c.543T>C	XP_011532347.1:p.Cys181=
XM_017007106.1:c.543T>C	XP_016862595.1:p.Cys181=
NM_003242.6:c.648T>C MANE Select	NP_003233.4:p.Cys216=