Canonical Allele Identifier: CA433058947

Gene: TGFBR2

Linked Data

• ClinVar Variation Id: 1767152
• ClinVar RCV Id: RCV002374113
• dbSNP Id: rs1575157861
• COSMIC: COSM1043519 ; COSM1593588
• MyVariant Identifiers: chr3:g.30713624T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30672132T>C , CM000665.2:g.30672132T>C	GRCh38
NC_000003.11:g.30713624T>C , CM000665.1:g.30713624T>C	GRCh37
NC_000003.10:g.30688628T>C	NCBI36
NG_007490.1:g.70631T>C , LRG_779:g.70631T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.949T>C MANE Select	ENSP00000295754.5:p.Leu317=
ENST00000672866.1:n.2545T>C
ENST00000295754.9:c.949T>C	ENSP00000295754.5:p.Leu317=
ENST00000359013.4:c.1024T>C	ENSP00000351905.4:p.Leu342=
NM_001024847.2:c.1024T>C , LRG_779t1:c.1024T>C	NP_001020018.1:p.Leu342=
NM_003242.5:c.949T>C	NP_003233.4:p.Leu317=
XM_011534043.1:c.976T>C	XP_011532345.1:p.Leu326=
XM_011534044.1:c.901T>C	XP_011532346.1:p.Leu301=
XM_011534045.1:c.844T>C	XP_011532347.1:p.Leu282=
XM_011534043.2:c.976T>C	XP_011532345.1:p.Leu326=
XM_011534045.3:c.844T>C	XP_011532347.1:p.Leu282=
XM_017007106.1:c.844T>C	XP_016862595.1:p.Leu282=
NM_003242.6:c.949T>C MANE Select	NP_003233.4:p.Leu317=