Canonical Allele Identifier: CA351807675

Gene: TGFBR2

Linked Data

• ClinVar Variation Id: 2577389
• ClinVar RCV Id: RCV003324466
• dbSNP Id: rs2125434070
• MyVariant Identifiers: chr3:g.30713374C>A (hg19) ; chr3:g.30671882C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30671882C>A , CM000665.2:g.30671882C>A	GRCh38
NC_000003.11:g.30713374C>A , CM000665.1:g.30713374C>A	GRCh37
NC_000003.10:g.30688378C>A	NCBI36
NG_007490.1:g.70381C>A , LRG_779:g.70381C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.699C>A MANE Select	ENSP00000295754.5:p.Asn233Lys
ENST00000672866.1:n.2295C>A
ENST00000295754.9:c.699C>A	ENSP00000295754.5:p.Asn233Lys
ENST00000359013.4:c.774C>A	ENSP00000351905.4:p.Asn258Lys
NM_001024847.2:c.774C>A , LRG_779t1:c.774C>A	NP_001020018.1:p.Asn258Lys
NM_003242.5:c.699C>A	NP_003233.4:p.Asn233Lys
XM_011534043.1:c.726C>A	XP_011532345.1:p.Asn242Lys
XM_011534044.1:c.651C>A	XP_011532346.1:p.Asn217Lys
XM_011534045.1:c.594C>A	XP_011532347.1:p.Asn198Lys
XM_011534043.2:c.726C>A	XP_011532345.1:p.Asn242Lys
XM_011534045.3:c.594C>A	XP_011532347.1:p.Asn198Lys
XM_017007106.1:c.594C>A	XP_016862595.1:p.Asn198Lys
NM_003242.6:c.699C>A MANE Select	NP_003233.4:p.Asn233Lys