Canonical Allele Identifier: CA16617062

Gene: TGFB2

Linked Data

• ClinVar Variation Id: 423492
• ClinVar RCV Id: RCV000484113 ; RCV003139685
• dbSNP Id: rs1064796462
• MyVariant Identifiers: chr1:g.218520144G>A (hg19) ; chr1:g.218346802G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.218346802G>A , CM000663.2:g.218346802G>A	GRCh38
NC_000001.10:g.218520144G>A , CM000663.1:g.218520144G>A	GRCh37
NC_000001.9:g.216586767G>A	NCBI36
NG_027721.1:g.6469G>A
NG_027721.2:g.6469G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366930.9:c.101G>A MANE Select	ENSP00000355897.4:p.Arg34His
ENST00000366929.4:c.101G>A	ENSP00000355896.4:p.Arg34His
ENST00000366930.8:c.101G>A	ENSP00000355897.4:p.Arg34His
NM_001135599.2:c.101G>A	NP_001129071.1:p.Arg34His
NM_003238.3:c.101G>A	NP_003229.1:p.Arg34His
NM_001135599.3:c.101G>A	NP_001129071.1:p.Arg34His
NM_003238.4:c.101G>A	NP_003229.1:p.Arg34His
NR_138148.1:n.1519G>A
NR_138149.1:n.1519G>A
NM_003238.5:c.101G>A	NP_003229.1:p.Arg34His
NM_003238.6:c.101G>A MANE Select	NP_003229.1:p.Arg34His
NM_001135599.4:c.101G>A	NP_001129071.1:p.Arg34His
NR_138148.2:n.1467G>A
NR_138149.2:n.1467G>A