Canonical Allele Identifier: CA344725146

Gene: TGFB2

Linked Data

• ClinVar Variation Id: 2975770
• ClinVar RCV Id: RCV003833856
• dbSNP Id: rs1656693157
• gnomAD v3: 1-218346739-A-G
• gnomAD v4: 1-218346739-A-G
• MyVariant Identifiers: chr1:g.218520081A>G (hg19) ; chr1:g.218346739A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.218346739A>G , CM000663.2:g.218346739A>G	GRCh38
NC_000001.10:g.218520081A>G , CM000663.1:g.218520081A>G	GRCh37
NC_000001.9:g.216586704A>G	NCBI36
NG_027721.1:g.6406A>G
NG_027721.2:g.6406A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366930.9:c.38A>G MANE Select	ENSP00000355897.4:p.His13Arg
ENST00000366929.4:c.38A>G	ENSP00000355896.4:p.His13Arg
ENST00000366930.8:c.38A>G	ENSP00000355897.4:p.His13Arg
NM_001135599.2:c.38A>G	NP_001129071.1:p.His13Arg
NM_003238.3:c.38A>G	NP_003229.1:p.His13Arg
NM_001135599.3:c.38A>G	NP_001129071.1:p.His13Arg
NM_003238.4:c.38A>G	NP_003229.1:p.His13Arg
NR_138148.1:n.1456A>G
NR_138149.1:n.1456A>G
NM_003238.5:c.38A>G	NP_003229.1:p.His13Arg
NM_003238.6:c.38A>G MANE Select	NP_003229.1:p.His13Arg
NM_001135599.4:c.38A>G	NP_001129071.1:p.His13Arg
NR_138148.2:n.1404A>G
NR_138149.2:n.1404A>G