Canonical Allele Identifier: CA020601

Gene: TGFBR2

Linked Data

• ClinVar Variation Id: 165394
• ClinVar RCV Id: RCV000152007
• dbSNP Id: rs727503474
• MyVariant Identifiers: chr3:g.30713757_30713759del (hg19) ; chr3:g.30672265_30672267del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30672265_30672267del , CM000665.2:g.30672265_30672267del	GRCh38
NC_000003.11:g.30713757_30713759del , CM000665.1:g.30713757_30713759del	GRCh37
NC_000003.10:g.30688761_30688763del	NCBI36
NG_007490.1:g.70764_70766del , LRG_779:g.70764_70766del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.1082_1084del MANE Select	ENSP00000295754.5:p.Leu361del
ENST00000672866.1:n.2678_2680del
ENST00000295754.9:c.1082_1084del	ENSP00000295754.5:p.Leu361del
ENST00000359013.4:c.1157_1159del	ENSP00000351905.4:p.Leu386del
NM_001024847.2:c.1157_1159del , LRG_779t1:c.1157_1159del	NP_001020018.1:p.Leu386del
NM_003242.5:c.1082_1084del	NP_003233.4:p.Leu361del
XM_011534043.1:c.1109_1111del	XP_011532345.1:p.Leu370del
XM_011534044.1:c.1034_1036del	XP_011532346.1:p.Leu345del
XM_011534045.1:c.977_979del	XP_011532347.1:p.Leu326del
XM_011534043.2:c.1109_1111del	XP_011532345.1:p.Leu370del
XM_011534045.3:c.977_979del	XP_011532347.1:p.Leu326del
XM_017007106.1:c.977_979del	XP_016862595.1:p.Leu326del
NM_003242.6:c.1082_1084del MANE Select	NP_003233.4:p.Leu361del