Canonical Allele Identifier: CA423412674

Gene: TGFB2

Linked Data

• ClinVar Variation Id: 1562756
• ClinVar RCV Id: RCV002205034
• dbSNP Id: rs1440677621
• gnomAD v4: 1-218346812-C-A
• MyVariant Identifiers: chr1:g.218520154C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.218346812C>A , CM000663.2:g.218346812C>A	GRCh38
NC_000001.10:g.218520154C>A , CM000663.1:g.218520154C>A	GRCh37
NC_000001.9:g.216586777C>A	NCBI36
NG_027721.1:g.6479C>A
NG_027721.2:g.6479C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000366930.9:c.111C>A MANE Select	ENSP00000355897.4:p.Ile37=
ENST00000366929.4:c.111C>A	ENSP00000355896.4:p.Ile37=
ENST00000366930.8:c.111C>A	ENSP00000355897.4:p.Ile37=
NM_001135599.2:c.111C>A	NP_001129071.1:p.Ile37=
NM_003238.3:c.111C>A	NP_003229.1:p.Ile37=
NM_001135599.3:c.111C>A	NP_001129071.1:p.Ile37=
NM_003238.4:c.111C>A	NP_003229.1:p.Ile37=
NR_138148.1:n.1529C>A
NR_138149.1:n.1529C>A
NM_003238.5:c.111C>A	NP_003229.1:p.Ile37=
NM_003238.6:c.111C>A MANE Select	NP_003229.1:p.Ile37=
NM_001135599.4:c.111C>A	NP_001129071.1:p.Ile37=
NR_138148.2:n.1477C>A
NR_138149.2:n.1477C>A