Canonical Allele Identifier: CA10587567

Gene: TGFBR2

Linked Data

• ClinVar Variation Id: 264397
• ClinVar RCV Id: RCV000253663
• dbSNP Id: rs863223845
• MyVariant Identifiers: chr3:g.30713864G>A (hg19) ; chr3:g.30672372G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30672372G>A , CM000665.2:g.30672372G>A	GRCh38
NC_000003.11:g.30713864G>A , CM000665.1:g.30713864G>A	GRCh37
NC_000003.10:g.30688868G>A	NCBI36
NG_007490.1:g.70871G>A , LRG_779:g.70871G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000295754.10:c.1189G>A MANE Select	ENSP00000295754.5:p.Asp397Asn
ENST00000672866.1:n.2785G>A
ENST00000295754.9:c.1189G>A	ENSP00000295754.5:p.Asp397Asn
ENST00000359013.4:c.1264G>A	ENSP00000351905.4:p.Asp422Asn
NM_001024847.2:c.1264G>A , LRG_779t1:c.1264G>A	NP_001020018.1:p.Asp422Asn
NM_003242.5:c.1189G>A	NP_003233.4:p.Asp397Asn
XM_011534043.1:c.1216G>A	XP_011532345.1:p.Asp406Asn
XM_011534044.1:c.1141G>A	XP_011532346.1:p.Asp381Asn
XM_011534045.1:c.1084G>A	XP_011532347.1:p.Asp362Asn
XM_011534043.2:c.1216G>A	XP_011532345.1:p.Asp406Asn
XM_011534045.3:c.1084G>A	XP_011532347.1:p.Asp362Asn
XM_017007106.1:c.1084G>A	XP_016862595.1:p.Asp362Asn
NM_003242.6:c.1189G>A MANE Select	NP_003233.4:p.Asp397Asn