Canonical Allele Identifier: CA10618389

Gene: TGFBR2

Linked Data

• ClinVar Variation Id: 344646
• ClinVar RCV Id: RCV000306322 ; RCV000342599 ; RCV002488745 ; RCV000393157 ; RCV004021901
• dbSNP Id: rs886058297
• gnomAD v2: 3-30648005-A-C
• gnomAD v3: 3-30606513-A-C
• gnomAD v4: 3-30606513-A-C
• MyVariant Identifiers: chr3:g.30648005A>C (hg19) ; chr3:g.30606513A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30606513A>C , CM000665.2:g.30606513A>C	GRCh38
NC_000003.11:g.30648005A>C , CM000665.1:g.30648005A>C	GRCh37
NC_000003.10:g.30623009A>C	NCBI36
NG_007490.1:g.5012A>C , LRG_779:g.5012A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.9:c.-371A>C	ENSP00000295754.5:n.-371A>C
NM_001024847.2:c.-371A>C , LRG_779t1:c.-371A>C	NP_001020018.1:n.-371A>C
NM_003242.5:c.-371A>C	NP_003233.4:n.-371A>C
XM_011534045.1:c.-92A>C	XP_011532347.1:n.-92A>C
XM_011534045.3:c.-92A>C	XP_011532347.1:n.-92A>C