Canonical Allele Identifier: CA433058949

Gene: TGFBR2

Linked Data

• ClinVar Variation Id: 1767346
• ClinVar RCV Id: RCV002385177 ; RCV004007291
• dbSNP Id: rs2125435306
• gnomAD v4: 3-30672137-G-A
• COSMIC: COSM3592329 ; COSM3592330
• MyVariant Identifiers: chr3:g.30713629G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30672137G>A , CM000665.2:g.30672137G>A	GRCh38
NC_000003.11:g.30713629G>A , CM000665.1:g.30713629G>A	GRCh37
NC_000003.10:g.30688633G>A	NCBI36
NG_007490.1:g.70636G>A , LRG_779:g.70636G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.954G>A MANE Select	ENSP00000295754.5:p.Gly318=
ENST00000672866.1:n.2550G>A
ENST00000295754.9:c.954G>A	ENSP00000295754.5:p.Gly318=
ENST00000359013.4:c.1029G>A	ENSP00000351905.4:p.Gly343=
NM_001024847.2:c.1029G>A , LRG_779t1:c.1029G>A	NP_001020018.1:p.Gly343=
NM_003242.5:c.954G>A	NP_003233.4:p.Gly318=
XM_011534043.1:c.981G>A	XP_011532345.1:p.Gly327=
XM_011534044.1:c.906G>A	XP_011532346.1:p.Gly302=
XM_011534045.1:c.849G>A	XP_011532347.1:p.Gly283=
XM_011534043.2:c.981G>A	XP_011532345.1:p.Gly327=
XM_011534045.3:c.849G>A	XP_011532347.1:p.Gly283=
XM_017007106.1:c.849G>A	XP_016862595.1:p.Gly283=
NM_003242.6:c.954G>A MANE Select	NP_003233.4:p.Gly318=