Canonical Allele Identifier: CA433058698

Gene: TGFBR2

Linked Data

• ClinVar Variation Id: 1971775
• ClinVar RCV Id: RCV002740996
• gnomAD v4: 3-30671984-T-A
• MyVariant Identifiers: chr3:g.30713476T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30671984T>A , CM000665.2:g.30671984T>A	GRCh38
NC_000003.11:g.30713476T>A , CM000665.1:g.30713476T>A	GRCh37
NC_000003.10:g.30688480T>A	NCBI36
NG_007490.1:g.70483T>A , LRG_779:g.70483T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.801T>A MANE Select	ENSP00000295754.5:p.Thr267=
ENST00000672866.1:n.2397T>A
ENST00000295754.9:c.801T>A	ENSP00000295754.5:p.Thr267=
ENST00000359013.4:c.876T>A	ENSP00000351905.4:p.Thr292=
NM_001024847.2:c.876T>A , LRG_779t1:c.876T>A	NP_001020018.1:p.Thr292=
NM_003242.5:c.801T>A	NP_003233.4:p.Thr267=
XM_011534043.1:c.828T>A	XP_011532345.1:p.Thr276=
XM_011534044.1:c.753T>A	XP_011532346.1:p.Thr251=
XM_011534045.1:c.696T>A	XP_011532347.1:p.Thr232=
XM_011534043.2:c.828T>A	XP_011532345.1:p.Thr276=
XM_011534045.3:c.696T>A	XP_011532347.1:p.Thr232=
XM_017007106.1:c.696T>A	XP_016862595.1:p.Thr232=
NM_003242.6:c.801T>A MANE Select	NP_003233.4:p.Thr267=