Canonical Allele Identifier: CA71528854

Gene: TGFBR2

Linked Data

• ClinVar Variation Id: 921459
• ClinVar RCV Id: RCV001180899
• dbSNP Id: rs1049576348
• MyVariant Identifiers: chr3:g.30713841A>G (hg19) ; chr3:g.30672349A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30672349A>G , CM000665.2:g.30672349A>G	GRCh38
NC_000003.11:g.30713841A>G , CM000665.1:g.30713841A>G	GRCh37
NC_000003.10:g.30688845A>G	NCBI36
NG_007490.1:g.70848A>G , LRG_779:g.70848A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000295754.10:c.1166A>G MANE Select	ENSP00000295754.5:p.Asn389Ser
ENST00000672866.1:n.2762A>G
ENST00000295754.9:c.1166A>G	ENSP00000295754.5:p.Asn389Ser
ENST00000359013.4:c.1241A>G	ENSP00000351905.4:p.Asn414Ser
NM_001024847.2:c.1241A>G , LRG_779t1:c.1241A>G	NP_001020018.1:p.Asn414Ser
NM_003242.5:c.1166A>G	NP_003233.4:p.Asn389Ser
XM_011534043.1:c.1193A>G	XP_011532345.1:p.Asn398Ser
XM_011534044.1:c.1118A>G	XP_011532346.1:p.Asn373Ser
XM_011534045.1:c.1061A>G	XP_011532347.1:p.Asn354Ser
XM_011534043.2:c.1193A>G	XP_011532345.1:p.Asn398Ser
XM_011534045.3:c.1061A>G	XP_011532347.1:p.Asn354Ser
XM_017007106.1:c.1061A>G	XP_016862595.1:p.Asn354Ser
NM_003242.6:c.1166A>G MANE Select	NP_003233.4:p.Asn389Ser