Canonical Allele Identifier: CA351808423

Gene: TGFBR2

Linked Data

• ClinVar Variation Id: 2115557
• ClinVar RCV Id: RCV003032721
• MyVariant Identifiers: chr3:g.30713715T>A (hg19) ; chr3:g.30672223T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30672223T>A , CM000665.2:g.30672223T>A	GRCh38
NC_000003.11:g.30713715T>A , CM000665.1:g.30713715T>A	GRCh37
NC_000003.10:g.30688719T>A	NCBI36
NG_007490.1:g.70722T>A , LRG_779:g.70722T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.1040T>A MANE Select	ENSP00000295754.5:p.Leu347Gln
ENST00000672866.1:n.2636T>A
ENST00000295754.9:c.1040T>A	ENSP00000295754.5:p.Leu347Gln
ENST00000359013.4:c.1115T>A	ENSP00000351905.4:p.Leu372Gln
NM_001024847.2:c.1115T>A , LRG_779t1:c.1115T>A	NP_001020018.1:p.Leu372Gln
NM_003242.5:c.1040T>A	NP_003233.4:p.Leu347Gln
XM_011534043.1:c.1067T>A	XP_011532345.1:p.Leu356Gln
XM_011534044.1:c.992T>A	XP_011532346.1:p.Leu331Gln
XM_011534045.1:c.935T>A	XP_011532347.1:p.Leu312Gln
XM_011534043.2:c.1067T>A	XP_011532345.1:p.Leu356Gln
XM_011534045.3:c.935T>A	XP_011532347.1:p.Leu312Gln
XM_017007106.1:c.935T>A	XP_016862595.1:p.Leu312Gln
NM_003242.6:c.1040T>A MANE Select	NP_003233.4:p.Leu347Gln