Canonical Allele Identifier: CA432917966

Gene: TGFBR2

Linked Data

• ClinVar Variation Id: 924544
• ClinVar RCV Id: RCV001185917
• dbSNP Id: rs1369389276
• gnomAD v2: 3-30732926-G-A
• gnomAD v3: 3-30691434-G-A
• gnomAD v4: 3-30691434-G-A
• MyVariant Identifiers: chr3:g.30732926G>A (hg19) ; chr3:g.30691434G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30691434G>A , CM000665.2:g.30691434G>A	GRCh38
NC_000003.11:g.30732926G>A , CM000665.1:g.30732926G>A	GRCh37
NC_000003.10:g.30707930G>A	NCBI36
NG_007490.1:g.89933G>A , LRG_779:g.89933G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000295754.10:c.1539G>A MANE Select	ENSP00000295754.5:p.Val513=
ENST00000672050.1:n.423G>A
ENST00000672866.1:n.3135G>A
ENST00000673203.1:n.417G>A
ENST00000295754.9:c.1539G>A	ENSP00000295754.5:p.Val513=
ENST00000359013.4:c.1614G>A	ENSP00000351905.4:p.Val538=
NM_001024847.2:c.1614G>A , LRG_779t1:c.1614G>A	NP_001020018.1:p.Val538=
NM_003242.5:c.1539G>A	NP_003233.4:p.Val513=
XM_011534043.1:c.1566G>A	XP_011532345.1:p.Val522=
XM_011534044.1:c.1491G>A	XP_011532346.1:p.Val497=
XM_011534045.1:c.1434G>A	XP_011532347.1:p.Val478=
XM_011534043.2:c.1566G>A	XP_011532345.1:p.Val522=
XM_011534045.3:c.1434G>A	XP_011532347.1:p.Val478=
XM_017007106.1:c.1434G>A	XP_016862595.1:p.Val478=
NM_003242.6:c.1539G>A MANE Select	NP_003233.4:p.Val513=