Canonical Allele Identifier: CA048107

Gene: TGFBR2

Linked Data

• ClinVar Variation Id: 477546
• ClinVar RCV Id: RCV000559144 ; RCV000680445 ; RCV001001460
• dbSNP Id: rs79375991
• ExAC: 3:30691871 GA / G
• gnomAD v2: 3-30691871-GA-G
• gnomAD v3: 3-30650379-GA-G
• gnomAD v4: 3-30650379-GA-G
• COSMIC: COSM1180952 ; COSM1744957 ; COSM6056981 ; COSM6056982
• MyVariant Identifiers: chr3:g.30691881del (hg19) ; chr3:g.30691873del (hg19) ; chr3:g.30691872del (hg19) ; chr3:g.30650389del (hg38) ; chr3:g.30650381del (hg38) ; chr3:g.30650380del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30650389del , CM000665.2:g.30650389del	GRCh38
NC_000003.11:g.30691881del , CM000665.1:g.30691881del	GRCh37
NC_000003.10:g.30666885del	NCBI36
NG_007490.1:g.48888del , LRG_779:g.48888del

Transcript Alleles

HGVS	Amino-acid change
ENST00000295754.10:c.383del MANE Select	ENSP00000295754.5:p.Lys128SerfsTer?
ENST00000672866.1:n.1979del
ENST00000673250.1:n.507del
ENST00000295754.9:c.383del	ENSP00000295754.5:p.Lys128SerfsTer?
ENST00000359013.4:c.458del	ENSP00000351905.4:p.Lys153SerfsTer?
NM_001024847.2:c.458del , LRG_779t1:c.458del	NP_001020018.1:p.Lys153SerfsTer?
NM_003242.5:c.383del	NP_003233.4:p.Lys128SerfsTer?
XM_011534043.1:c.410del	XP_011532345.1:p.Lys137SerfsTer?
XM_011534044.1:c.335del	XP_011532346.1:p.Lys112SerfsTer?
XM_011534045.1:c.278del	XP_011532347.1:p.Lys93SerfsTer?
XM_011534043.2:c.410del	XP_011532345.1:p.Lys137SerfsTer?
XM_011534045.3:c.278del	XP_011532347.1:p.Lys93SerfsTer?
XM_017007106.1:c.278del	XP_016862595.1:p.Lys93SerfsTer?
NM_003242.6:c.383del MANE Select	NP_003233.4:p.Lys128SerfsTer?