Canonical Allele Identifier: CA433009869

Gene: TGFBR2

Linked Data

• dbSNP Id: rs1281085856
• gnomAD v2: 3-30648382-CG-C
• gnomAD v4: 3-30606890-CG-C
• COSMIC: COSM6458454 ; COSM6458455
• MyVariant Identifiers: chr3:g.30648383del (hg19) ; chr3:g.30606891del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30606895del , CM000665.2:g.30606895del	GRCh38
NC_000003.11:g.30648387del , CM000665.1:g.30648387del	GRCh37
NC_000003.10:g.30623391del	NCBI36
NG_007490.1:g.5394del , LRG_779:g.5394del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.12del MANE Select	ENSP00000295754.5:p.Leu5CysfsTer?
ENST00000295754.9:c.12del	ENSP00000295754.5:p.Leu5CysfsTer?
ENST00000359013.4:c.12del	ENSP00000351905.4:p.Leu5CysfsTer?
NM_001024847.2:c.12del , LRG_779t1:c.12del	NP_001020018.1:p.Leu5CysfsTer?
NM_003242.5:c.12del	NP_003233.4:p.Leu5CysfsTer?
XM_011534045.1:c.-12+302del	XP_011532347.1:n.-12+302del
XM_011534045.3:c.-12+302del	XP_011532347.1:n.-12+302del
NM_003242.6:c.12del MANE Select	NP_003233.4:p.Leu5CysfsTer?