Canonical Allele Identifier: CA351808934

Gene: TGFBR2

Linked Data

• ClinVar Variation Id: 1308862
• ClinVar RCV Id: RCV001754750
• dbSNP Id: rs1371233083
• MyVariant Identifiers: chr3:g.30715631T>C (hg19) ; chr3:g.30674139T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30674139T>C , CM000665.2:g.30674139T>C	GRCh38
NC_000003.11:g.30715631T>C , CM000665.1:g.30715631T>C	GRCh37
NC_000003.10:g.30690635T>C	NCBI36
NG_007490.1:g.72638T>C , LRG_779:g.72638T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000295754.10:c.1289T>C MANE Select	ENSP00000295754.5:p.Leu430Pro
ENST00000672866.1:n.2885T>C
ENST00000673203.1:n.167T>C
ENST00000295754.9:c.1289T>C	ENSP00000295754.5:p.Leu430Pro
ENST00000359013.4:c.1364T>C	ENSP00000351905.4:p.Leu455Pro
NM_001024847.2:c.1364T>C , LRG_779t1:c.1364T>C	NP_001020018.1:p.Leu455Pro
NM_003242.5:c.1289T>C	NP_003233.4:p.Leu430Pro
XM_011534043.1:c.1316T>C	XP_011532345.1:p.Leu439Pro
XM_011534044.1:c.1241T>C	XP_011532346.1:p.Leu414Pro
XM_011534045.1:c.1184T>C	XP_011532347.1:p.Leu395Pro
XM_011534043.2:c.1316T>C	XP_011532345.1:p.Leu439Pro
XM_011534045.3:c.1184T>C	XP_011532347.1:p.Leu395Pro
XM_017007106.1:c.1184T>C	XP_016862595.1:p.Leu395Pro
NM_003242.6:c.1289T>C MANE Select	NP_003233.4:p.Leu430Pro