Canonical Allele Identifier: CA2580062180
Gene: TGFB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1797425
ClinVar RCV Id: RCV002438050

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.218346729del , CM000663.2:g.218346729del GRCh38
NC_000001.10:g.218520071del , CM000663.1:g.218520071del GRCh37
NC_000001.9:g.216586694del NCBI36
NG_027721.1:g.6396del
NG_027721.2:g.6396del

Transcript Alleles

HGVS Amino-acid Change
ENST00000366930.9:c.28del MANE Select ENSP00000355897.4:p.Leu10Ter
ENST00000366929.4:c.28del ENSP00000355896.4:p.Leu10Ter
ENST00000366930.8:c.28del ENSP00000355897.4:p.Leu10Ter
NM_001135599.2:c.28del NP_001129071.1:p.Leu10Ter
NM_003238.3:c.28del NP_003229.1:p.Leu10Ter
NM_001135599.3:c.28del NP_001129071.1:p.Leu10Ter
NM_003238.4:c.28del NP_003229.1:p.Leu10Ter
NR_138148.1:n.1446del
NR_138149.1:n.1446del
NM_003238.5:c.28del NP_003229.1:p.Leu10Ter
NM_003238.6:c.28del MANE Select NP_003229.1:p.Leu10Ter
NM_001135599.4:c.28del NP_001129071.1:p.Leu10Ter
NR_138148.2:n.1394del
NR_138149.2:n.1394del