Canonical Allele Identifier: CA344727426

Gene: TGFB2

Linked Data

• dbSNP Id: rs1660004413
• MyVariant Identifiers: chr1:g.218610701T>G (hg19) ; chr1:g.218437359T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.218437359T>G , CM000663.2:g.218437359T>G	GRCh38
NC_000001.10:g.218610701T>G , CM000663.1:g.218610701T>G	GRCh37
NC_000001.9:g.216677324T>G	NCBI36
NG_027721.1:g.97026T>G
NG_027721.2:g.97026T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366930.9:c.949T>G MANE Select	ENSP00000355897.4:p.Cys317Gly
ENST00000366929.4:c.1033T>G	ENSP00000355896.4:p.Cys345Gly
ENST00000366930.8:c.949T>G	ENSP00000355897.4:p.Cys317Gly
ENST00000479322.1:n.433T>G
NM_001135599.2:c.1033T>G	NP_001129071.1:p.Cys345Gly
NM_003238.3:c.949T>G	NP_003229.1:p.Cys317Gly
NM_001135599.3:c.1033T>G	NP_001129071.1:p.Cys345Gly
NM_003238.4:c.949T>G	NP_003229.1:p.Cys317Gly
NR_138148.1:n.2252T>G
NR_138149.1:n.2336T>G
NM_003238.5:c.949T>G	NP_003229.1:p.Cys317Gly
NM_003238.6:c.949T>G MANE Select	NP_003229.1:p.Cys317Gly
NM_001135599.4:c.1033T>G	NP_001129071.1:p.Cys345Gly
NR_138148.2:n.2200T>G
NR_138149.2:n.2284T>G