Canonical Allele Identifier: CA351808699

Gene: TGFBR2

Linked Data

• ClinVar Variation Id: 1679895
• ClinVar RCV Id: RCV002227911
• dbSNP Id: rs2125436754
• MyVariant Identifiers: chr3:g.30713852T>C (hg19) ; chr3:g.30672360T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30672360T>C , CM000665.2:g.30672360T>C	GRCh38
NC_000003.11:g.30713852T>C , CM000665.1:g.30713852T>C	GRCh37
NC_000003.10:g.30688856T>C	NCBI36
NG_007490.1:g.70859T>C , LRG_779:g.70859T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.1177T>C MANE Select	ENSP00000295754.5:p.Cys393Arg
ENST00000672866.1:n.2773T>C
ENST00000295754.9:c.1177T>C	ENSP00000295754.5:p.Cys393Arg
ENST00000359013.4:c.1252T>C	ENSP00000351905.4:p.Cys418Arg
NM_001024847.2:c.1252T>C , LRG_779t1:c.1252T>C	NP_001020018.1:p.Cys418Arg
NM_003242.5:c.1177T>C	NP_003233.4:p.Cys393Arg
XM_011534043.1:c.1204T>C	XP_011532345.1:p.Cys402Arg
XM_011534044.1:c.1129T>C	XP_011532346.1:p.Cys377Arg
XM_011534045.1:c.1072T>C	XP_011532347.1:p.Cys358Arg
XM_011534043.2:c.1204T>C	XP_011532345.1:p.Cys402Arg
XM_011534045.3:c.1072T>C	XP_011532347.1:p.Cys358Arg
XM_017007106.1:c.1072T>C	XP_016862595.1:p.Cys358Arg
NM_003242.6:c.1177T>C MANE Select	NP_003233.4:p.Cys393Arg