Canonical Allele Identifier: CA10615556
Gene: TGFBR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 344652
ClinVar RCV Id: RCV000285652 RCV000342929 RCV000397680
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)
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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
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