Canonical Allele Identifier: CA351808185

Gene: TGFBR2

Linked Data

• ClinVar Variation Id: 547811
• ClinVar RCV Id: RCV000660321 ; RCV002485504 ; RCV004004202
• dbSNP Id: rs1553630181
• gnomAD v4: 3-30672111-G-A
• MyVariant Identifiers: chr3:g.30713603G>A (hg19) ; chr3:g.30672111G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30672111G>A , CM000665.2:g.30672111G>A	GRCh38
NC_000003.11:g.30713603G>A , CM000665.1:g.30713603G>A	GRCh37
NC_000003.10:g.30688607G>A	NCBI36
NG_007490.1:g.70610G>A , LRG_779:g.70610G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.928G>A MANE Select	ENSP00000295754.5:p.Ala310Thr
ENST00000672866.1:n.2524G>A
ENST00000295754.9:c.928G>A	ENSP00000295754.5:p.Ala310Thr
ENST00000359013.4:c.1003G>A	ENSP00000351905.4:p.Ala335Thr
NM_001024847.2:c.1003G>A , LRG_779t1:c.1003G>A	NP_001020018.1:p.Ala335Thr
NM_003242.5:c.928G>A	NP_003233.4:p.Ala310Thr
XM_011534043.1:c.955G>A	XP_011532345.1:p.Ala319Thr
XM_011534044.1:c.880G>A	XP_011532346.1:p.Ala294Thr
XM_011534045.1:c.823G>A	XP_011532347.1:p.Ala275Thr
XM_011534043.2:c.955G>A	XP_011532345.1:p.Ala319Thr
XM_011534045.3:c.823G>A	XP_011532347.1:p.Ala275Thr
XM_017007106.1:c.823G>A	XP_016862595.1:p.Ala275Thr
NM_003242.6:c.928G>A MANE Select	NP_003233.4:p.Ala310Thr