Canonical Allele Identifier: CA344725383

Gene: TGFB2

Linked Data

• ClinVar Variation Id: 520195
• ClinVar RCV Id: RCV000786410 ; RCV001824351 ; RCV002315236
• dbSNP Id: rs1553292088
• MyVariant Identifiers: chr1:g.218520186T>G (hg19) ; chr1:g.218346844T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.218346844T>G , CM000663.2:g.218346844T>G	GRCh38
NC_000001.10:g.218520186T>G , CM000663.1:g.218520186T>G	GRCh37
NC_000001.9:g.216586809T>G	NCBI36
NG_027721.1:g.6511T>G
NG_027721.2:g.6511T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366930.9:c.143T>G MANE Select	ENSP00000355897.4:p.Leu48Arg
ENST00000366929.4:c.143T>G	ENSP00000355896.4:p.Leu48Arg
ENST00000366930.8:c.143T>G	ENSP00000355897.4:p.Leu48Arg
NM_001135599.2:c.143T>G	NP_001129071.1:p.Leu48Arg
NM_003238.3:c.143T>G	NP_003229.1:p.Leu48Arg
NM_001135599.3:c.143T>G	NP_001129071.1:p.Leu48Arg
NM_003238.4:c.143T>G	NP_003229.1:p.Leu48Arg
NR_138148.1:n.1561T>G
NR_138149.1:n.1561T>G
NM_003238.5:c.143T>G	NP_003229.1:p.Leu48Arg
NM_003238.6:c.143T>G MANE Select	NP_003229.1:p.Leu48Arg
NM_001135599.4:c.143T>G	NP_001129071.1:p.Leu48Arg
NR_138148.2:n.1509T>G
NR_138149.2:n.1509T>G