Canonical Allele Identifier: CA16603492

Gene: TGFB2

Linked Data

• ClinVar Variation Id: 382809
• ClinVar RCV Id: RCV000441929
• dbSNP Id: rs201129153
• MyVariant Identifiers: chr1:g.218614599C>G (hg19) ; chr1:g.218441257C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.218441257C>G , CM000663.2:g.218441257C>G	GRCh38
NC_000001.10:g.218614599C>G , CM000663.1:g.218614599C>G	GRCh37
NC_000001.9:g.216681222C>G	NCBI36
NG_027721.1:g.100924C>G
NG_027721.2:g.100924C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000366930.9:c.1140C>G MANE Select	ENSP00000355897.4:p.Cys380Trp
ENST00000366929.4:c.1224C>G	ENSP00000355896.4:p.Cys408Trp
ENST00000366930.8:c.1140C>G	ENSP00000355897.4:p.Cys380Trp
ENST00000479322.1:n.624C>G
NM_001135599.2:c.1224C>G	NP_001129071.1:p.Cys408Trp
NM_003238.3:c.1140C>G	NP_003229.1:p.Cys380Trp
NM_001135599.3:c.1224C>G	NP_001129071.1:p.Cys408Trp
NM_003238.4:c.1140C>G	NP_003229.1:p.Cys380Trp
NR_138148.1:n.2443C>G
NR_138149.1:n.2527C>G
NM_003238.5:c.1140C>G	NP_003229.1:p.Cys380Trp
NM_003238.6:c.1140C>G MANE Select	NP_003229.1:p.Cys380Trp
NM_001135599.4:c.1224C>G	NP_001129071.1:p.Cys408Trp
NR_138148.2:n.2391C>G
NR_138149.2:n.2475C>G