Canonical Allele Identifier: CA10582148

Gene: TGFBR2

Linked Data

• ClinVar Variation Id: 239529
• ClinVar RCV Id: RCV000227819
• dbSNP Id: rs878854611
• MyVariant Identifiers: chr3:g.30732916del (hg19) ; chr3:g.30691424del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30691424del , CM000665.2:g.30691424del	GRCh38
NC_000003.11:g.30732916del , CM000665.1:g.30732916del	GRCh37
NC_000003.10:g.30707920del	NCBI36
NG_007490.1:g.89923del , LRG_779:g.89923del

Transcript Alleles

HGVS	Amino-acid change
ENST00000295754.10:c.1529del MANE Select	ENSP00000295754.5:p.Ile510ThrfsTer8
ENST00000672050.1:n.413del
ENST00000672866.1:n.3125del
ENST00000673203.1:n.407del
ENST00000295754.9:c.1529del	ENSP00000295754.5:p.Ile510ThrfsTer8
ENST00000359013.4:c.1604del	ENSP00000351905.4:p.Ile535ThrfsTer8
NM_001024847.2:c.1604del , LRG_779t1:c.1604del	NP_001020018.1:p.Ile535ThrfsTer8
NM_003242.5:c.1529del	NP_003233.4:p.Ile510ThrfsTer8
XM_011534043.1:c.1556del	XP_011532345.1:p.Ile519ThrfsTer8
XM_011534044.1:c.1481del	XP_011532346.1:p.Ile494ThrfsTer8
XM_011534045.1:c.1424del	XP_011532347.1:p.Ile475ThrfsTer8
XM_011534043.2:c.1556del	XP_011532345.1:p.Ile519ThrfsTer8
XM_011534045.3:c.1424del	XP_011532347.1:p.Ile475ThrfsTer8
XM_017007106.1:c.1424del	XP_016862595.1:p.Ile475ThrfsTer8
NM_003242.6:c.1529del MANE Select	NP_003233.4:p.Ile510ThrfsTer8