Canonical Allele Identifier: CA325083

Gene: TGFBR2

Linked Data

• ClinVar Variation Id: 213925
• ClinVar RCV Id: RCV000200504
• dbSNP Id: rs863223846
• MyVariant Identifiers: chr3:g.30713865A>G (hg19) ; chr3:g.30672373A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30672373A>G , CM000665.2:g.30672373A>G	GRCh38
NC_000003.11:g.30713865A>G , CM000665.1:g.30713865A>G	GRCh37
NC_000003.10:g.30688869A>G	NCBI36
NG_007490.1:g.70872A>G , LRG_779:g.70872A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.1190A>G MANE Select	ENSP00000295754.5:p.Asp397Gly
ENST00000672866.1:n.2786A>G
ENST00000295754.9:c.1190A>G	ENSP00000295754.5:p.Asp397Gly
ENST00000359013.4:c.1265A>G	ENSP00000351905.4:p.Asp422Gly
NM_001024847.2:c.1265A>G , LRG_779t1:c.1265A>G	NP_001020018.1:p.Asp422Gly
NM_003242.5:c.1190A>G	NP_003233.4:p.Asp397Gly
XM_011534043.1:c.1217A>G	XP_011532345.1:p.Asp406Gly
XM_011534044.1:c.1142A>G	XP_011532346.1:p.Asp381Gly
XM_011534045.1:c.1085A>G	XP_011532347.1:p.Asp362Gly
XM_011534043.2:c.1217A>G	XP_011532345.1:p.Asp406Gly
XM_011534045.3:c.1085A>G	XP_011532347.1:p.Asp362Gly
XM_017007106.1:c.1085A>G	XP_016862595.1:p.Asp362Gly
NM_003242.6:c.1190A>G MANE Select	NP_003233.4:p.Asp397Gly