Canonical Allele Identifier: CA71528554

Gene: TGFBR2

Linked Data

• ClinVar Variation Id: 2449730
• ClinVar RCV Id: RCV003171243
• dbSNP Id: rs752866783
• gnomAD v4: 3-30672196-C-A
• MyVariant Identifiers: chr3:g.30713688C>A (hg19) ; chr3:g.30672196C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30672196C>A , CM000665.2:g.30672196C>A	GRCh38
NC_000003.11:g.30713688C>A , CM000665.1:g.30713688C>A	GRCh37
NC_000003.10:g.30688692C>A	NCBI36
NG_007490.1:g.70695C>A , LRG_779:g.70695C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.1013C>A MANE Select	ENSP00000295754.5:p.Thr338Lys
ENST00000672866.1:n.2609C>A
ENST00000295754.9:c.1013C>A	ENSP00000295754.5:p.Thr338Lys
ENST00000359013.4:c.1088C>A	ENSP00000351905.4:p.Thr363Lys
NM_001024847.2:c.1088C>A , LRG_779t1:c.1088C>A	NP_001020018.1:p.Thr363Lys
NM_003242.5:c.1013C>A	NP_003233.4:p.Thr338Lys
XM_011534043.1:c.1040C>A	XP_011532345.1:p.Thr347Lys
XM_011534044.1:c.965C>A	XP_011532346.1:p.Thr322Lys
XM_011534045.1:c.908C>A	XP_011532347.1:p.Thr303Lys
XM_011534043.2:c.1040C>A	XP_011532345.1:p.Thr347Lys
XM_011534045.3:c.908C>A	XP_011532347.1:p.Thr303Lys
XM_017007106.1:c.908C>A	XP_016862595.1:p.Thr303Lys
NM_003242.6:c.1013C>A MANE Select	NP_003233.4:p.Thr338Lys