Canonical Allele Identifier: CA351809187

Gene: TGFBR2

Linked Data

• ClinVar Variation Id: 926929
• ClinVar RCV Id: RCV001189836
• dbSNP Id: rs1321865816
• gnomAD v2: 3-30729876-A-T
• gnomAD v3: 3-30688384-A-T
• gnomAD v4: 3-30688384-A-T
• MyVariant Identifiers: chr3:g.30729876A>T (hg19) ; chr3:g.30688384A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30688384A>T , CM000665.2:g.30688384A>T	GRCh38
NC_000003.11:g.30729876A>T , CM000665.1:g.30729876A>T	GRCh37
NC_000003.10:g.30704880A>T	NCBI36
NG_007490.1:g.86883A>T , LRG_779:g.86883A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000295754.10:c.1397A>T MANE Select	ENSP00000295754.5:p.Glu466Val
ENST00000672050.1:n.281A>T
ENST00000672866.1:n.2993A>T
ENST00000673203.1:n.275A>T
ENST00000295754.9:c.1397A>T	ENSP00000295754.5:p.Glu466Val
ENST00000359013.4:c.1472A>T	ENSP00000351905.4:p.Glu491Val
NM_001024847.2:c.1472A>T , LRG_779t1:c.1472A>T	NP_001020018.1:p.Glu491Val
NM_003242.5:c.1397A>T	NP_003233.4:p.Glu466Val
XM_011534043.1:c.1424A>T	XP_011532345.1:p.Glu475Val
XM_011534044.1:c.1349A>T	XP_011532346.1:p.Glu450Val
XM_011534045.1:c.1292A>T	XP_011532347.1:p.Glu431Val
XM_011534043.2:c.1424A>T	XP_011532345.1:p.Glu475Val
XM_011534045.3:c.1292A>T	XP_011532347.1:p.Glu431Val
XM_017007106.1:c.1292A>T	XP_016862595.1:p.Glu431Val
NM_003242.6:c.1397A>T MANE Select	NP_003233.4:p.Glu466Val