Canonical Allele Identifier: CA658820899

Gene: TGFB2

Linked Data

• ClinVar Variation Id: 962501
• ClinVar RCV Id: RCV001586076 ; RCV001824431
• dbSNP Id: rs1656708526

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.218347006_218347008del , CM000663.2:g.218347006_218347008del	GRCh38
NC_000001.10:g.218520348_218520350del , CM000663.1:g.218520348_218520350del	GRCh37
NC_000001.9:g.216586971_216586973del	NCBI36
NG_027721.1:g.6673_6675del
NG_027721.2:g.6673_6675del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366930.9:c.305_307del MANE Select	ENSP00000355897.4:p.Glu102del
ENST00000366929.4:c.305_307del	ENSP00000355896.4:p.Glu102del
ENST00000366930.8:c.305_307del	ENSP00000355897.4:p.Glu102del
NM_001135599.2:c.305_307del	NP_001129071.1:p.Glu102del
NM_003238.3:c.305_307del	NP_003229.1:p.Glu102del
NM_001135599.3:c.305_307del	NP_001129071.1:p.Glu102del
NM_003238.4:c.305_307del	NP_003229.1:p.Glu102del
NR_138148.1:n.1723_1725del
NR_138149.1:n.1723_1725del
NM_003238.5:c.305_307del	NP_003229.1:p.Glu102del
NM_003238.6:c.305_307del MANE Select	NP_003229.1:p.Glu102del
NM_001135599.4:c.305_307del	NP_001129071.1:p.Glu102del
NR_138148.2:n.1671_1673del
NR_138149.2:n.1671_1673del