Canonical Allele Identifier: CA351809190

Gene: TGFBR2

Linked Data

• ClinVar Variation Id: 1771704
• ClinVar RCV Id: RCV002389181
• dbSNP Id: rs2125451578
• gnomAD v4: 3-30688386-G-A
• MyVariant Identifiers: chr3:g.30729878G>A (hg19) ; chr3:g.30688386G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30688386G>A , CM000665.2:g.30688386G>A	GRCh38
NC_000003.11:g.30729878G>A , CM000665.1:g.30729878G>A	GRCh37
NC_000003.10:g.30704882G>A	NCBI36
NG_007490.1:g.86885G>A , LRG_779:g.86885G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000295754.10:c.1399G>A MANE Select	ENSP00000295754.5:p.Val467Ile
ENST00000672050.1:n.283G>A
ENST00000672866.1:n.2995G>A
ENST00000673203.1:n.277G>A
ENST00000295754.9:c.1399G>A	ENSP00000295754.5:p.Val467Ile
ENST00000359013.4:c.1474G>A	ENSP00000351905.4:p.Val492Ile
NM_001024847.2:c.1474G>A , LRG_779t1:c.1474G>A	NP_001020018.1:p.Val492Ile
NM_003242.5:c.1399G>A	NP_003233.4:p.Val467Ile
XM_011534043.1:c.1426G>A	XP_011532345.1:p.Val476Ile
XM_011534044.1:c.1351G>A	XP_011532346.1:p.Val451Ile
XM_011534045.1:c.1294G>A	XP_011532347.1:p.Val432Ile
XM_011534043.2:c.1426G>A	XP_011532345.1:p.Val476Ile
XM_011534045.3:c.1294G>A	XP_011532347.1:p.Val432Ile
XM_017007106.1:c.1294G>A	XP_016862595.1:p.Val432Ile
NM_003242.6:c.1399G>A MANE Select	NP_003233.4:p.Val467Ile