Canonical Allele Identifier: CA344725883

Gene: TGFB2

Linked Data

• ClinVar Variation Id: 452426
• ClinVar RCV Id: RCV000520853
• dbSNP Id: rs1300823855
• gnomAD v2: 1-218578526-C-G
• gnomAD v3: 1-218405184-C-G
• gnomAD v4: 1-218405184-C-G
• MyVariant Identifiers: chr1:g.218578526C>G (hg19) ; chr1:g.218405184C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.218405184C>G , CM000663.2:g.218405184C>G	GRCh38
NC_000001.10:g.218578526C>G , CM000663.1:g.218578526C>G	GRCh37
NC_000001.9:g.216645149C>G	NCBI36
NG_027721.1:g.64851C>G
NG_027721.2:g.64851C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000366930.9:c.362C>G MANE Select	ENSP00000355897.4:p.Thr121Ser
ENST00000366929.4:c.446C>G	ENSP00000355896.4:p.Thr149Ser
ENST00000366930.8:c.362C>G	ENSP00000355897.4:p.Thr121Ser
ENST00000488793.1:n.26C>G
NM_001135599.2:c.446C>G	NP_001129071.1:p.Thr149Ser
NM_003238.3:c.362C>G	NP_003229.1:p.Thr121Ser
NM_001135599.3:c.446C>G	NP_001129071.1:p.Thr149Ser
NM_003238.4:c.362C>G	NP_003229.1:p.Thr121Ser
NR_138148.1:n.1780C>G
NR_138149.1:n.1864C>G
NM_003238.5:c.362C>G	NP_003229.1:p.Thr121Ser
NM_003238.6:c.362C>G MANE Select	NP_003229.1:p.Thr121Ser
NM_001135599.4:c.446C>G	NP_001129071.1:p.Thr149Ser
NR_138148.2:n.1728C>G
NR_138149.2:n.1812C>G