Canonical Allele Identifier: CA049770

Gene: TGFBR2

Linked Data

• ClinVar Variation Id: 918623
• ClinVar RCV Id: RCV001176313 ; RCV003142101 ; RCV004006284
• dbSNP Id: rs761231369
• ExAC: 3:30713415 A / T
• gnomAD v2: 3-30713415-A-T
• gnomAD v3: 3-30671923-A-T
• gnomAD v4: 3-30671923-A-T
• MyVariant Identifiers: chr3:g.30713415A>T (hg19) ; chr3:g.30671923A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30671923A>T , CM000665.2:g.30671923A>T	GRCh38
NC_000003.11:g.30713415A>T , CM000665.1:g.30713415A>T	GRCh37
NC_000003.10:g.30688419A>T	NCBI36
NG_007490.1:g.70422A>T , LRG_779:g.70422A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.740A>T MANE Select	ENSP00000295754.5:p.Asp247Val
ENST00000672866.1:n.2336A>T
ENST00000295754.9:c.740A>T	ENSP00000295754.5:p.Asp247Val
ENST00000359013.4:c.815A>T	ENSP00000351905.4:p.Asp272Val
NM_001024847.2:c.815A>T , LRG_779t1:c.815A>T	NP_001020018.1:p.Asp272Val
NM_003242.5:c.740A>T	NP_003233.4:p.Asp247Val
XM_011534043.1:c.767A>T	XP_011532345.1:p.Asp256Val
XM_011534044.1:c.692A>T	XP_011532346.1:p.Asp231Val
XM_011534045.1:c.635A>T	XP_011532347.1:p.Asp212Val
XM_011534043.2:c.767A>T	XP_011532345.1:p.Asp256Val
XM_011534045.3:c.635A>T	XP_011532347.1:p.Asp212Val
XM_017007106.1:c.635A>T	XP_016862595.1:p.Asp212Val
NM_003242.6:c.740A>T MANE Select	NP_003233.4:p.Asp247Val