Canonical Allele Identifier: CA10615556

Gene: TGFBR2

Linked Data

• ClinVar Variation Id: 344652
• ClinVar RCV Id: RCV000285652 ; RCV000342929 ; RCV000397680 ; RCV002487512 ; RCV004021906
• dbSNP Id: rs886058301
• gnomAD v2: 3-30648183-G-A
• gnomAD v3: 3-30606691-G-A
• gnomAD v4: 3-30606691-G-A
• MyVariant Identifiers: chr3:g.30648183G>A (hg19) ; chr3:g.30606691G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30606691G>A , CM000665.2:g.30606691G>A	GRCh38
NC_000003.11:g.30648183G>A , CM000665.1:g.30648183G>A	GRCh37
NC_000003.10:g.30623187G>A	NCBI36
NG_007490.1:g.5190G>A , LRG_779:g.5190G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.-193G>A MANE Select	ENSP00000295754.5:n.-193G>A
ENST00000295754.9:c.-193G>A	ENSP00000295754.5:n.-193G>A
ENST00000359013.4:c.-193G>A	ENSP00000351905.4:n.-193G>A
NM_001024847.2:c.-193G>A , LRG_779t1:c.-193G>A	NP_001020018.1:n.-193G>A
NM_003242.5:c.-193G>A	NP_003233.4:n.-193G>A
XM_011534045.1:c.-12+98G>A	XP_011532347.1:n.-12+98G>A
XM_011534045.3:c.-12+98G>A	XP_011532347.1:n.-12+98G>A
NM_003242.6:c.-193G>A MANE Select	NP_003233.4:n.-193G>A