Canonical Allele Identifier: CA049673

Gene: TGFBR2

Linked Data

• dbSNP Id: rs772053650
• ExAC: 3:30713360 T / A
• gnomAD v2: 3-30713360-T-A
• gnomAD v4: 3-30671868-T-A
• MyVariant Identifiers: chr3:g.30713360T>A (hg19) ; chr3:g.30671868T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30671868T>A , CM000665.2:g.30671868T>A	GRCh38
NC_000003.11:g.30713360T>A , CM000665.1:g.30713360T>A	GRCh37
NC_000003.10:g.30688364T>A	NCBI36
NG_007490.1:g.70367T>A , LRG_779:g.70367T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.685T>A MANE Select	ENSP00000295754.5:p.Ser229Thr
ENST00000672866.1:n.2281T>A
ENST00000295754.9:c.685T>A	ENSP00000295754.5:p.Ser229Thr
ENST00000359013.4:c.760T>A	ENSP00000351905.4:p.Ser254Thr
NM_001024847.2:c.760T>A , LRG_779t1:c.760T>A	NP_001020018.1:p.Ser254Thr
NM_003242.5:c.685T>A	NP_003233.4:p.Ser229Thr
XM_011534043.1:c.712T>A	XP_011532345.1:p.Ser238Thr
XM_011534044.1:c.637T>A	XP_011532346.1:p.Ser213Thr
XM_011534045.1:c.580T>A	XP_011532347.1:p.Ser194Thr
XM_011534043.2:c.712T>A	XP_011532345.1:p.Ser238Thr
XM_011534045.3:c.580T>A	XP_011532347.1:p.Ser194Thr
XM_017007106.1:c.580T>A	XP_016862595.1:p.Ser194Thr
NM_003242.6:c.685T>A MANE Select	NP_003233.4:p.Ser229Thr