Canonical Allele Identifier: CA351808826

Gene: TGFBR2

Linked Data

• ClinVar Variation Id: 1758289
• ClinVar RCV Id: RCV002380085
• dbSNP Id: rs2125437095
• MyVariant Identifiers: chr3:g.30713915G>A (hg19) ; chr3:g.30672423G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30672423G>A , CM000665.2:g.30672423G>A	GRCh38
NC_000003.11:g.30713915G>A , CM000665.1:g.30713915G>A	GRCh37
NC_000003.10:g.30688919G>A	NCBI36
NG_007490.1:g.70922G>A , LRG_779:g.70922G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.1240G>A MANE Select	ENSP00000295754.5:p.Ala414Thr
ENST00000672866.1:n.2836G>A
ENST00000295754.9:c.1240G>A	ENSP00000295754.5:p.Ala414Thr
ENST00000359013.4:c.1315G>A	ENSP00000351905.4:p.Ala439Thr
NM_001024847.2:c.1315G>A , LRG_779t1:c.1315G>A	NP_001020018.1:p.Ala439Thr
NM_003242.5:c.1240G>A	NP_003233.4:p.Ala414Thr
XM_011534043.1:c.1267G>A	XP_011532345.1:p.Ala423Thr
XM_011534044.1:c.1192G>A	XP_011532346.1:p.Ala398Thr
XM_011534045.1:c.1135G>A	XP_011532347.1:p.Ala379Thr
XM_011534043.2:c.1267G>A	XP_011532345.1:p.Ala423Thr
XM_011534045.3:c.1135G>A	XP_011532347.1:p.Ala379Thr
XM_017007106.1:c.1135G>A	XP_016862595.1:p.Ala379Thr
NM_003242.6:c.1240G>A MANE Select	NP_003233.4:p.Ala414Thr