Canonical Allele Identifier: CA432917629

Gene: TGFBR2

Linked Data

• ClinVar Variation Id: 3073548
• ClinVar RCV Id: RCV004016554
• dbSNP Id: rs2125436861
• gnomAD v4: 3-30672380-G-A
• MyVariant Identifiers: chr3:g.30713872G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30672380G>A , CM000665.2:g.30672380G>A	GRCh38
NC_000003.11:g.30713872G>A , CM000665.1:g.30713872G>A	GRCh37
NC_000003.10:g.30688876G>A	NCBI36
NG_007490.1:g.70879G>A , LRG_779:g.70879G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.1197G>A MANE Select	ENSP00000295754.5:p.Gly399=
ENST00000672866.1:n.2793G>A
ENST00000295754.9:c.1197G>A	ENSP00000295754.5:p.Gly399=
ENST00000359013.4:c.1272G>A	ENSP00000351905.4:p.Gly424=
NM_001024847.2:c.1272G>A , LRG_779t1:c.1272G>A	NP_001020018.1:p.Gly424=
NM_003242.5:c.1197G>A	NP_003233.4:p.Gly399=
XM_011534043.1:c.1224G>A	XP_011532345.1:p.Gly408=
XM_011534044.1:c.1149G>A	XP_011532346.1:p.Gly383=
XM_011534045.1:c.1092G>A	XP_011532347.1:p.Gly364=
XM_011534043.2:c.1224G>A	XP_011532345.1:p.Gly408=
XM_011534045.3:c.1092G>A	XP_011532347.1:p.Gly364=
XM_017007106.1:c.1092G>A	XP_016862595.1:p.Gly364=
NM_003242.6:c.1197G>A MANE Select	NP_003233.4:p.Gly399=