Canonical Allele Identifier: CA658820903
Gene: TGFB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1702284
ClinVar RCV Id: RCV002278074
dbSNP Id: rs2102630133

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.218437451del , CM000663.2:g.218437451del GRCh38
NC_000001.10:g.218610793del , CM000663.1:g.218610793del GRCh37
NC_000001.9:g.216677416del NCBI36
NG_027721.1:g.97118del
NG_027721.2:g.97118del

Transcript Alleles

HGVS Amino-acid Change
ENST00000366930.9:c.1041del MANE Select ENSP00000355897.4:p.Gly348GlufsTer17
ENST00000366929.4:c.1125del ENSP00000355896.4:p.Gly376GlufsTer17
ENST00000366930.8:c.1041del ENSP00000355897.4:p.Gly348GlufsTer17
ENST00000479322.1:n.525del
NM_001135599.2:c.1125del NP_001129071.1:p.Gly376GlufsTer17
NM_003238.3:c.1041del NP_003229.1:p.Gly348GlufsTer17
NM_001135599.3:c.1125del NP_001129071.1:p.Gly376GlufsTer17
NM_003238.4:c.1041del NP_003229.1:p.Gly348GlufsTer17
NR_138148.1:n.2344del
NR_138149.1:n.2428del
NM_003238.5:c.1041del NP_003229.1:p.Gly348GlufsTer17
NM_003238.6:c.1041del MANE Select NP_003229.1:p.Gly348GlufsTer17
NM_001135599.4:c.1125del NP_001129071.1:p.Gly376GlufsTer17
NR_138148.2:n.2292del
NR_138149.2:n.2376del