Canonical Allele Identifier: CA049576

Gene: TGFBR2

Linked Data

• ClinVar Variation Id: 705654
• ClinVar RCV Id: RCV001176529 ; RCV004003109
• dbSNP Id: rs755404252
• ExAC: 3:30713341 T / C
• gnomAD v2: 3-30713341-T-C
• gnomAD v3: 3-30671849-T-C
• gnomAD v4: 3-30671849-T-C
• MyVariant Identifiers: chr3:g.30713341T>C (hg19) ; chr3:g.30671849T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30671849T>C , CM000665.2:g.30671849T>C	GRCh38
NC_000003.11:g.30713341T>C , CM000665.1:g.30713341T>C	GRCh37
NC_000003.10:g.30688345T>C	NCBI36
NG_007490.1:g.70348T>C , LRG_779:g.70348T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.666T>C MANE Select	ENSP00000295754.5:p.Asp222=
ENST00000672866.1:n.2262T>C
ENST00000295754.9:c.666T>C	ENSP00000295754.5:p.Asp222=
ENST00000359013.4:c.741T>C	ENSP00000351905.4:p.Asp247=
NM_001024847.2:c.741T>C , LRG_779t1:c.741T>C	NP_001020018.1:p.Asp247=
NM_003242.5:c.666T>C	NP_003233.4:p.Asp222=
XM_011534043.1:c.693T>C	XP_011532345.1:p.Asp231=
XM_011534044.1:c.618T>C	XP_011532346.1:p.Asp206=
XM_011534045.1:c.561T>C	XP_011532347.1:p.Asp187=
XM_011534043.2:c.693T>C	XP_011532345.1:p.Asp231=
XM_011534045.3:c.561T>C	XP_011532347.1:p.Asp187=
XM_017007106.1:c.561T>C	XP_016862595.1:p.Asp187=
NM_003242.6:c.666T>C MANE Select	NP_003233.4:p.Asp222=