Canonical Allele Identifier: CA351809154

Gene: TGFBR2

Linked Data

• ClinVar Variation Id: 1679651
• ClinVar RCV Id: RCV002227675
• dbSNP Id: rs2125439408
• gnomAD v4: 3-30674236-T-G
• MyVariant Identifiers: chr3:g.30715728T>G (hg19) ; chr3:g.30674236T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30674236T>G , CM000665.2:g.30674236T>G	GRCh38
NC_000003.11:g.30715728T>G , CM000665.1:g.30715728T>G	GRCh37
NC_000003.10:g.30690732T>G	NCBI36
NG_007490.1:g.72735T>G , LRG_779:g.72735T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.1386T>G MANE Select	ENSP00000295754.5:p.Asn462Lys
ENST00000672866.1:n.2982T>G
ENST00000673203.1:n.264T>G
ENST00000295754.9:c.1386T>G	ENSP00000295754.5:p.Asn462Lys
ENST00000359013.4:c.1461T>G	ENSP00000351905.4:p.Asn487Lys
NM_001024847.2:c.1461T>G , LRG_779t1:c.1461T>G	NP_001020018.1:p.Asn487Lys
NM_003242.5:c.1386T>G	NP_003233.4:p.Asn462Lys
XM_011534043.1:c.1413T>G	XP_011532345.1:p.Asn471Lys
XM_011534044.1:c.1338T>G	XP_011532346.1:p.Asn446Lys
XM_011534045.1:c.1281T>G	XP_011532347.1:p.Asn427Lys
XM_011534043.2:c.1413T>G	XP_011532345.1:p.Asn471Lys
XM_011534045.3:c.1281T>G	XP_011532347.1:p.Asn427Lys
XM_017007106.1:c.1281T>G	XP_016862595.1:p.Asn427Lys
NM_003242.6:c.1386T>G MANE Select	NP_003233.4:p.Asn462Lys