Canonical Allele Identifier: CA10618034

Gene: TGFBR2

Linked Data

• ClinVar Variation Id: 344687
• ClinVar RCV Id: RCV000268242 ; RCV000323399 ; RCV000358273
• dbSNP Id: rs548242538
• gnomAD v3: 3-30692458-G-A
• gnomAD v4: 3-30692458-G-A
• MyVariant Identifiers: chr3:g.30733950G>A (hg19) ; chr3:g.30692458G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30692458G>A , CM000665.2:g.30692458G>A	GRCh38
NC_000003.11:g.30733950G>A , CM000665.1:g.30733950G>A	GRCh37
NC_000003.10:g.30708954G>A	NCBI36
NG_007490.1:g.90957G>A , LRG_779:g.90957G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.*859G>A MANE Select	ENSP00000295754.5:n.*859G>A
ENST00000672866.1:n.4159G>A
ENST00000673203.1:n.1441G>A
ENST00000295754.9:c.*859G>A	ENSP00000295754.5:n.*859G>A
ENST00000359013.4:c.*859G>A	ENSP00000351905.4:n.*859G>A
NM_001024847.2:c.*859G>A , LRG_779t1:c.*859G>A	NP_001020018.1:n.*859G>A
NM_003242.5:c.*859G>A	NP_003233.4:n.*859G>A
XM_011534043.1:c.*859G>A	XP_011532345.1:n.*859G>A
XM_011534044.1:c.*859G>A	XP_011532346.1:n.*859G>A
XM_011534045.1:c.*859G>A	XP_011532347.1:n.*859G>A
XM_011534043.2:c.*859G>A	XP_011532345.1:n.*859G>A
XM_011534045.3:c.*859G>A	XP_011532347.1:n.*859G>A
XM_017007106.1:c.*859G>A	XP_016862595.1:n.*859G>A
NM_003242.6:c.*859G>A MANE Select	NP_003233.4:n.*859G>A