Canonical Allele Identifier: CA344725328
Gene: TGFB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1312656
ClinVar RCV Id: RCV001763662
dbSNP Id: rs2102527486

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.218346820T>A , CM000663.2:g.218346820T>A GRCh38
NC_000001.10:g.218520162T>A , CM000663.1:g.218520162T>A GRCh37
NC_000001.9:g.216586785T>A NCBI36
NG_027721.1:g.6487T>A
NG_027721.2:g.6487T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000366930.9:c.119T>A MANE Select ENSP00000355897.4:p.Ile40Asn
ENST00000366929.4:c.119T>A ENSP00000355896.4:p.Ile40Asn
ENST00000366930.8:c.119T>A ENSP00000355897.4:p.Ile40Asn
NM_001135599.2:c.119T>A NP_001129071.1:p.Ile40Asn
NM_003238.3:c.119T>A NP_003229.1:p.Ile40Asn
NM_001135599.3:c.119T>A NP_001129071.1:p.Ile40Asn
NM_003238.4:c.119T>A NP_003229.1:p.Ile40Asn
NR_138148.1:n.1537T>A
NR_138149.1:n.1537T>A
NM_003238.5:c.119T>A NP_003229.1:p.Ile40Asn
NM_003238.6:c.119T>A MANE Select NP_003229.1:p.Ile40Asn
NM_001135599.4:c.119T>A NP_001129071.1:p.Ile40Asn
NR_138148.2:n.1485T>A
NR_138149.2:n.1485T>A