Canonical Allele Identifier: CA433009875

Gene: TGFBR2

Linked Data

• ClinVar Variation Id: 628749
• ClinVar RCV Id: RCV000773412 ; RCV004027250
• dbSNP Id: rs1559443648
• gnomAD v4: 3-30606892-G-A
• MyVariant Identifiers: chr3:g.30648384G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30606892G>A , CM000665.2:g.30606892G>A	GRCh38
NC_000003.11:g.30648384G>A , CM000665.1:g.30648384G>A	GRCh37
NC_000003.10:g.30623388G>A	NCBI36
NG_007490.1:g.5391G>A , LRG_779:g.5391G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.9G>A MANE Select	ENSP00000295754.5:p.Arg3=
ENST00000295754.9:c.9G>A	ENSP00000295754.5:p.Arg3=
ENST00000359013.4:c.9G>A	ENSP00000351905.4:p.Arg3=
NM_001024847.2:c.9G>A , LRG_779t1:c.9G>A	NP_001020018.1:p.Arg3=
NM_003242.5:c.9G>A	NP_003233.4:p.Arg3=
XM_011534045.1:c.-12+299G>A	XP_011532347.1:n.-12+299G>A
XM_011534045.3:c.-12+299G>A	XP_011532347.1:n.-12+299G>A
NM_003242.6:c.9G>A MANE Select	NP_003233.4:p.Arg3=