Canonical Allele Identifier: CA351808973

Gene: TGFBR2

Linked Data

• ClinVar Variation Id: 1437999
• ClinVar RCV Id: RCV001957733
• dbSNP Id: rs2125438974
• MyVariant Identifiers: chr3:g.30715647T>A (hg19) ; chr3:g.30674155T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30674155T>A , CM000665.2:g.30674155T>A	GRCh38
NC_000003.11:g.30715647T>A , CM000665.1:g.30715647T>A	GRCh37
NC_000003.10:g.30690651T>A	NCBI36
NG_007490.1:g.72654T>A , LRG_779:g.72654T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.1305T>A MANE Select	ENSP00000295754.5:p.Asn435Lys
ENST00000672866.1:n.2901T>A
ENST00000673203.1:n.183T>A
ENST00000295754.9:c.1305T>A	ENSP00000295754.5:p.Asn435Lys
ENST00000359013.4:c.1380T>A	ENSP00000351905.4:p.Asn460Lys
NM_001024847.2:c.1380T>A , LRG_779t1:c.1380T>A	NP_001020018.1:p.Asn460Lys
NM_003242.5:c.1305T>A	NP_003233.4:p.Asn435Lys
XM_011534043.1:c.1332T>A	XP_011532345.1:p.Asn444Lys
XM_011534044.1:c.1257T>A	XP_011532346.1:p.Asn419Lys
XM_011534045.1:c.1200T>A	XP_011532347.1:p.Asn400Lys
XM_011534043.2:c.1332T>A	XP_011532345.1:p.Asn444Lys
XM_011534045.3:c.1200T>A	XP_011532347.1:p.Asn400Lys
XM_017007106.1:c.1200T>A	XP_016862595.1:p.Asn400Lys
NM_003242.6:c.1305T>A MANE Select	NP_003233.4:p.Asn435Lys